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DHCR7 Gene

protein-coding   GIFtS: 71
GCID: GC11M071145

7-Dehydrocholesterol Reductase

(Previous name: Smith-Lemli-Opitz syndrome)
(Previous symbol: SLOS)
  See DHCR7-related diseases

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

7-Dehydrocholesterol Reductase1 2     Delta-7-Dehydrocholesterol Reductase2
SLOS1 2 5     Sterol Delta-7-Reductase2
Putative Sterol Reductase SR-22 3     D7SR3
7-DHC Reductase2 3     Sterol Delta(7)-Reductase3
EC 8     EC 1.3.18
Smith-Lemli-Opitz Syndrome1     

External Ids:    HGNC: 28601   Entrez Gene: 17172   Ensembl: ENSG000001728937   OMIM: 6028585   UniProtKB: Q9UBM73   

Export aliases for DHCR7 gene to outside databases

Previous GC identifiers: GC11M073477 GC11M072685 GC11M071368 GC11M070871 GC11M070823 GC11M067439

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DHCR7 Gene:
This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the
conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane
protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause
Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol
levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation,
facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal
physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple
transcript variants that encode the same protein.(provided by RefSeq, Aug 2009)

GeneCards Summary for DHCR7 Gene:
DHCR7 (7-dehydrocholesterol reductase) is a protein-coding gene. Diseases associated with DHCR7 include smith-lemli-opitz syndrome, and syndactyly. GO annotations related to this gene include 7-dehydrocholesterol reductase activity. An important paralog of this gene is LBR.

UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7
Function: Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC)

summary for DHCR7 Gene:
Delta7-Dehydrocholesterol reductase (DHCR) is a membrane-bound enzyme that catalyzes the final step of
cholesterol biosynthesis (the reduction of the C7-8 double bond in 7-dehydrocholesterol to form
cholesterol), using NADPH as a cofactor. Cholesterol is a vital component in biological membranes and in
myelin and is necessary for the synthesis of steroid hormones and bile acids. DHCR is ubiquitously expressed
and its highest concentrations are found in the liver and brain. Autosomal recessive mutations in the DHCR7
gene have been linked to Smith-Lemli-Opitz syndrome, an inherited disease causing multiple congenital
abnormalities linked to defects in cholesterol biosynthesis. The human gene encoding this enzyme is
localized to 11q12-13.

Gene Wiki entry for DHCR7 (7-Dehydrocholesterol reductase) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DHCR7 gene promoter:
         SRF   NF-1   NF-1/L   GATA-3   SRF (504 AA)   GATA-1   GATA-2   YY1   HOXA5   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DHCR7 promoter sequence
   Search Chromatin IP Primers for DHCR7

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DHCR7

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.4   Ensembl cytogenetic band:  11q13.4   HGNC cytogenetic band: 11q13.4

DHCR7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DHCR7 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M071145:  view genomic region     (about GC identifiers)

71,139,239 bp from pter      End:
71,163,914 bp from pter
24,676 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or GeneTex.)
About This Section

UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7 (See protein sequence)
Recommended Name: 7-dehydrocholesterol reductase  
Size: 475 amino acids; 54489 Da
Secondary accessions: B2R6Z2 O60492 O60717

Explore the universe of human proteins at neXtProt for DHCR7: NX_Q9UBM7

Explore proteomics data for DHCR7 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys13, Lys88
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DHCR7 (Q9UBM7) (see all 11)

    See DHCR7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001157289.1  NP_001351.2  

    ENSEMBL proteins: 
     ENSP00000432256   ENSP00000384739   ENSP00000347717   ENSP00000435011   ENSP00000435956  
     ENSP00000435047   ENSP00000435668   ENSP00000435707   ENSP00000432589   ENSP00000435058  
    Reactome Protein details: Q9UBM7

    DHCR7 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for DHCR7
    OriGene Custom MassSpec
    OriGene Custom Protein Services for DHCR7
    GenScript Custom Purified and Recombinant Proteins Services for DHCR7
    Novus Biologicals DHCR7 Protein
    Novus Biologicals DHCR7 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DHCR7

    Search eBioscience for Proteins for DHCR7 

    antibodies-online proteins for DHCR7 (2 products) 

    antibodies-online peptides for DHCR7

    Search GeneTex for Proteins for DHCR7 

    DHCR7 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for DHCR7
    Cloud-Clone Corp. Antibodies for DHCR7
    Search ThermoFisher Antibodies for DHCR7
    antibodies-online antibodies for DHCR7 (23 products) 

    GeneTex Antibodies for DHCR7:  
                        DHCR7 Antibodies

    DHCR7 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DHCR7
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DHCR7
    Cloud-Clone Corp. CLIAs for DHCR7
    Search eBioscience for ELISAs for DHCR7 
    antibodies-online kits for DHCR7 (10 products) 

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
    About This Section

    2 InterPro protein domains:
     IPR001171 Ergosterol_biosynth_ERG4_ERG24
     IPR018083 Sterol_reductase_CS

    Graphical View of Domain Structure for InterPro Entry Q9UBM7

    ProtoNet protein and cluster: Q9UBM7

    2 Blocks protein domains:
    IPB001171 ERG4/ERG24 ergosterol biosynthesis protein
    IPB011024 Gamma-crystallin related

    UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7
    Similarity: Belongs to the ERG4/ERG24 family

    Find genes that share domains with DHCR7           About GenesLikeMe

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway, and/or Taconic Biosciences, CRISPR knockouts from OriGene, transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Clones from OriGene, GenScript, Sino Biological, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DHCR7_HUMAN, Q9UBM7
    Function: Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC)
    Catalytic activity: Cholesterol + NADP(+) = cholesta-5,7-dien-3-beta-ol + NADPH

         Genatlas biochemistry entry for DHCR7:
    delta 7-dehydrocholesterol reductase,located in the endoplasmic reticulum and continuous outer nuclear
    membrane,ubiquitously expressed,most abundant in adrenals,liver,testis,brain,LBR superfamily,catalyzing the
    ultimate step of cholesterol biosynthesis,deficient in SLOS

         Enzyme Numbers (IUBMB): EC 2 EC 1.3.12

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016628oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor ----
    GO:00475987-dehydrocholesterol reductase activity IDA9465114
    Find genes that share ontologies with DHCR7           About GenesLikeMe

         2 GenomeRNAi human phenotypes for DHCR7:
     Decreased viability  Upregulation of Wnt/beta-caten 

         13 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Dhcr7):
     behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary  growth/size/body 
     homeostasis/metabolism  limbs/digits/tail  liver/biliary system  mortality/aging  muscle 
     nervous system  renal/urinary system  respiratory system 

    Find genes that share phenotypes with DHCR7           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for DHCR7: Dhcr7tm1Gst Dhcr7tm1Fdp

       genOway: Develop your customized and physiologically relevant rodent model for DHCR7

        Taconic Biosicences: Generate A Custom CRISPR Mouse Model For Your Study 

    CRISPR Knockouts: 
       OriGene CRISPR knockouts for DHCR7

    miRTarBase miRNAs that target DHCR7:
    hsa-mir-335-5p (MIRT016982), hsa-mir-425-5p (MIRT016653), hsa-mir-34a-5p (MIRT025254), hsa-mir-1260b (MIRT052760)

    Block miRNA regulation of human, mouse, rat DHCR7 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate DHCR7
    SwitchGear 3'UTR luciferase reporter plasmidDHCR7 3' UTR sequence
    Inhib. RNA
    OriGene RNAi products in human, mouse, rat for DHCR7
    Predesigned siRNA for gene silencing in human, mouse, rat DHCR7

    OriGene clones in human, mouse for DHCR7 (see all 11)
    OriGene ORF clones in mouse, rat for DHCR7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DHCR7 (NM_001360)
    Browse Sino Biological Human cDNA Clones
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DHCR7

    Cell Line
    GenScript Custom overexpressing Cell Line Services for DHCR7
    Browse ESI BIO Cell Lines and PureStem Progenitors for DHCR7 
    In Situ Assay

    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHCR7

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section

    Subcellular locations from UniProtKB/Swiss-Prot
    DHCR7_HUMAN, Q9UBM7: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    endoplasmic reticulum5
    plasma membrane3

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005640nuclear outer membrane IDA9878250
    GO:0005783endoplasmic reticulum IDA9878250
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with DHCR7           About GenesLikeMe

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section

    SuperPaths for DHCR7 About    
    See pathways by source

    SuperPathContained pathways About
    1superpathway of cholesterol biosynthesis
    superpathway of cholesterol biosynthesis0.85
    Steroid biosynthesis0.57
    Cholesterol biosynthesis0.85
    cholesterol biosynthesis I0.00
    Cholesterol biosynthesis0.62
    cholesterol biosynthesis III (via desmosterol)0.00
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)0.59
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.75
    Activation of Gene Expression by SREBP (SREBF)0.75

    Find genes that share SuperPaths with DHCR7           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways

    5 BioSystems Pathways for DHCR7
        Cholesterol biosynthesis
    cholesterol biosynthesis I
    superpathway of cholesterol biosynthesis
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
    cholesterol biosynthesis III (via desmosterol)

    2 Reactome Pathways for DHCR7
        Cholesterol biosynthesis
    Activation of gene expression by SREBF (SREBP)

    2 Kegg Pathways  (Kegg details for DHCR7):
        Steroid biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7
    Pathway: Steroid biosynthesis; cholesterol biosynthesis

        Pathway & Disease-focused RT2 Profiler PCR Array including DHCR7: 

              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat


        Search GeneGlobe Interaction Network for DHCR7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DHCR7 (Q9UBM72, 3 ENSP000003477174) via UniProtKB, MINT, STRING, and/or I2D (see all 183)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG482, 3, ENSP000003448184MINT-6489355 I2D: score=1 STRING: ENSP00000344818
    AGO2Q9UKV82, ENSP000002205924MINT-6489217 MINT-6489355 STRING: ENSP00000220592
    FADS1O604273, ENSP000003222294I2D: score=2 STRING: ENSP00000322229
    NDNQ996083, ENSP000003326434I2D: score=2 STRING: ENSP00000332643
    ACP6Q9NPH03, ENSP000003582414I2D: score=1 STRING: ENSP00000358241
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001568blood vessel development IEA--
    GO:0006695cholesterol biosynthetic process TAS--
    GO:0009791post-embryonic development IEA--
    GO:0016126sterol biosynthetic process ----
    GO:0030154cell differentiation IEA--

    Find genes that share ontologies with DHCR7           About GenesLikeMe

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
    About This Section

    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for DHCR7 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    AY 9944 dihydrochlorideInhibitor of Hedgehog (Hh) signaling. Inhibits delta7-dehydrocholesterol reductase[366-93-8]

    10 HMDB Compounds for DHCR7    About this table
    CompoundSynonyms CAS #PubMed Ids
    7-Dehydrocholesterol(-)-7-dehydrocholesterol (see all 26)434-16-218285838
    24-Methylenecholesterol(3b)-Ergosta-5,24(28)-dien-3-ol (see all 8)474-63-5--
    5-Dehydroavenasterol ----
    5-DehydroepisterolErgosta-5,7,24(28)-trien-3beta-ol (see all 2)23582-83-4--
    AvenasterolIsofucosterol (see all 10)481-14-1--
    Cholesterol(+)-ent-Cholesterol (see all 39)57-88-5--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--

    1 DrugBank Compound for DHCR7    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for DHCR7 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    7-dehydrocholesterol 98.3 159 9683613 (4), 16814115 (3), 9634533 (3), 20014133 (3) (see all 73)
    8-dehydrocholesterol 93.4 7 19406241 (1), 18249054 (1), 12949967 (1), 11352988 (1)
    3beta-hydroxysterol 92.3 6 16392899 (1), 11001807 (1), 11562938 (1), 16446309 (1) (see all 6)
    ay9944 84.6 7 8987154 (2), 9358606 (2), 16814115 (1)
    sterol 80.2 22 9634533 (4), 11001806 (2), 19940018 (2), 9683613 (1) (see all 10)
    cholesterol 76 135 17408495 (4), 20014133 (3), 16687448 (3), 18951487 (2) (see all 66)
    desmosterol 59.4 1 16207203 (1)
    squalene 53.1 8 18951487 (2), 15143536 (1)
    ergosterol 43.9 2 10719329 (1), 15464432 (1)
    simvastatin 42.8 3 15896653 (2), 19365639 (1)

    Find genes that share compounds with DHCR7           About GenesLikeMe

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    REFSEQ mRNAs for DHCR7 gene (2 alternative transcripts): 
    NM_001163817.1  NM_001360.2  

    Unigene Cluster for DHCR7:

    7-dehydrocholesterol reductase
    Hs.503134  [show with all ESTs]
    Unigene Representative Sequence: NM_001360
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000534795 ENST00000407721 ENST00000355527(uc001oqk.3 uc001oql.3)
    ENST00000533800 ENST00000525137 ENST00000527316 ENST00000534701 ENST00000526780
    ENST00000525346 ENST00000531364 ENST00000529990 ENST00000527452
    Block miRNA regulation of human, mouse, rat DHCR7 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate DHCR7
    SwitchGear 3'UTR luciferase reporter plasmidDHCR7 3' UTR sequence
    Inhib. RNA
    OriGene RNAi products in human, mouse, rat for DHCR7
    Predesigned siRNA for gene silencing in human, mouse, rat DHCR7
    OriGene clones in human, mouse for DHCR7 (see all 11)
    OriGene ORF clones in mouse, rat for DHCR7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DHCR7 (NM_001360)
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DHCR7
    OriGene qPCR primer pairs and template standards for DHCR7
    OriGene qSTAR qPCR primer pairs in human, mouse for DHCR7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DHCR7
      QuantiTect SYBR Green Assays in human, mouse, rat DHCR7
      QuantiFast Probe-based Assays in human, mouse, rat DHCR7

    Additional mRNA sequence: 

    AF034544.1 AF062481.1 AF067127.1 AF096305.1 AK289497.1 AK303881.1 AK309625.1 AK312775.1 

    19 DOTS entries:

    DT.100647914  DT.418224  DT.100647904  DT.95326177  DT.100647915  DT.120742723  DT.100671595  DT.120742731 
    DT.91758253  DT.95181639  DT.95357168  DT.100033172  DT.100647913  DT.120742718  DT.40108063  DT.95290620 
    DT.95357178  DT.100837843  DT.95357166 

    Selected AceView cDNA sequences (see all 440):

    AL044893 BM560287 BI835977 CR605911 AA343352 BG386167 AW249784 CD672136 
    CA454504 AA364447 BU846251 AU125589 AA861245 AA282516 BE799908 BU684875 
    AA070075 BU931469 BU848891 CR609879 AI610807 AI192049 AA834440 AL118630 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DHCR7 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b
    SP1:                          -     -     -                             -                       -                                         -               
    SP2:                                -     -                             -                       -                                         -               
    SP3:                                -     -                             -                       -                                                         
    SP4:                                -     -                             -     -                 -                                                         
    SP5:                                -     -                             -                                                                                 

    ECgene alternative splicing isoforms for DHCR7

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DHCR7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    DHCR7 Expression
    About this image

    DHCR7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     Pancreas (Endocrine System)
             Islets of Langerhans
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    DHCR7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DHCR7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.503134

    UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7
    Tissue specificity: Most abundant in adrenal gland, liver, testis, and brain

        Pathway & Disease-focused RT2 Profiler PCR Array including DHCR7: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    OriGene qPCR primer pairs and template standards for DHCR7
    OriGene qSTAR qPCR primer pairs in human, mouse for DHCR7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DHCR7
    QuantiTect SYBR Green Assays in human, mouse, rat DHCR7
    QuantiFast Probe-based Assays in human, mouse, rat DHCR7
    In Situ
    Assay Products:

    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHCR7

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DHCR7 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    Gene Description Human
    (Mus musculus)
    Mammalia Dhcr71 , 5 7-dehydrocholesterol reductase1, 5 84.85(n)1
      7 (88.33 cM)5
    133601  NM_007856.21  NP_031882.11 
    (Gallus gallus)
    Aves DHCR71 7-dehydrocholesterol reductase 71.66(n)
      422982  NM_001199490.1  NP_001186419.1 
    (Anolis carolinensis)
    Reptilia DHCR76
    7-dehydrocholesterol reductase
    1 ↔ 1
    African clawed frog
    (Xenopus laevis)
    Amphibia BC054203.12   -- 76.1(n)    BC054203.1 
    (Danio rerio)
    Actinopterygii dhcr72 7-dehydrocholesterol reductase 78.74(n)   378446  BC055631.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta LBR6
    Lamin B receptor
    1 ↔ 1
    (Caenorhabditis elegans)
    Secernentea dhcr-76
    Protein DHCR-7 (dhcr-7) mRNA, complete cds
    1 ↔ 1
    V(20480792-20485385) WBGene00007126
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG246
    C-14 sterol reductase, acts in ergosterol biosynth...
    1 → many
    XIV(109095-110411) YNL280C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DWF51 DWF5 48.81(n)
      841465  NM_103926.5  NP_175460.1 
    (Oryza sativa)
    Liliopsida Os02g04654001 Os02g0465400 49.32(n)
      4329318  NM_001053344.1  NP_001046809.1 

    ENSEMBL Gene Tree for DHCR7 (if available)
    TreeFam Gene Tree for DHCR7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to Build 68,Sets of similar genes according to GenesLikeMe)
    About This Section

    Paralogs for DHCR7 gene
    LBR2  TM7SF22  
    2 SIMAP similar genes for DHCR7 using alignment to 10 protein entries:     DHCR7_HUMAN (see all proteins):
    LBR    TM7SF2

    Find genes that share paralogs with DHCR7           About GenesLikeMe

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and 4UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    Selected SNPs for DHCR7 (see all 572)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    Chr 11 posSequence#AA
    Smith-Lemli-Opitz syndrome (SLOS)4--see VAR_0231812 H P mis40--------
    Smith-Lemli-Opitz syndrome (SLOS)4--see VAR_0231712 R Q mis40--------
    Smith-Lemli-Opitz syndrome (SLOS)4--see VAR_0231622 R C mis40--------
    Smith-Lemli-Opitz syndrome (SLOS)4--see VAR_0231562 S L mis40--------
    Smith-Lemli-Opitz syndrome (SLOS)4--see VAR_0231772 R S mis40--------
    Smith-Lemli-Opitz syndrome (SLOS)4--see VAR_0231762 S L mis40--------
    Smith-Lemli-Opitz syndrome (SLOS)4--see VAR_0231542 G D mis40--------
    Smith-Lemli-Opitz syndrome (SLOS)4--see VAR_0127252 T I mis40--------
    Smith-Lemli-Opitz syndrome (SLOS)4--see VAR_0231632 R H mis40--------
    Smith-Lemli-Opitz syndrome (SLOS)4--see VAR_0231752 C Y mis40--------

    HapMap Linkage Disequilibrium report for DHCR7 (71139239 - 71163914 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for DHCR7:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv74n21CNV Loss19592680
    nsv897898CNV Loss21882294
    nsv518163CNV Loss19592680
    nsv897897CNV Loss21882294
    nsv897896CNV Gain21882294

    Human Gene Mutation Database (HGMD): DHCR7
    Locus Specific Mutation Databases (LSDB): DHCR7

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DHCR7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
    About This Section

    OMIM gene information: 602858   
    OMIM disorders: 270400  
    UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7
  • Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]: An autosomal recessive frequent inborn disorder of sterol
    metabolism with characteristic congenital malformations and mental retardation. Children with SLOS have elevated
    serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high
    frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background.
    Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely
    affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe
    SLOS. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for DHCR7:    
    About MalaCards
    smith-lemli-opitz syndrome    syndactyly    atrioventricular septal defect    holoprosencephaly

    7 inferred disease relationships from the University of Copenhagen DISEASES database for DHCR7:
    Smith-Lemli-Opitz syndrome     Syndactyly     Intellectual disability     Atrioventricular septal defect
    Holoprosencephaly     Polydactyly     Autosomal recessive disease

    Find genes that share disorders with DHCR7           About GenesLikeMe

    9 Novoseek inferred disease relationships for DHCR7 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    smith-lemli-opitz syndrome 98.9 116 16392899 (3), 11298379 (2), 19406241 (2), 18249054 (2) (see all 75)
    anomaly congenital multiple 88.5 16 10719329 (1), 10899806 (1), 8863875 (1), 11175299 (1) (see all 12)
    mental retardation 77.1 14 10719329 (1), 10899806 (1), 18951487 (1), 8863875 (1) (see all 11)
    holoprosencephaly 74.8 4 8989473 (1), 19449411 (1), 9358606 (1)
    growth failure 50.7 4 10719329 (1), 11001806 (1), 10951458 (1)
    congenital malformation 49.7 2 10329655 (1), 10814720 (1)
    craniofacial anomaly 47.1 1 11001806 (1)
    developmental disabilities 42.9 3 16814115 (1), 11111101 (1)
    genetic disorder 35.4 2 10814720 (1), 11352988 (1)

    GeneTests: DHCR7
    GeneReviews: DHCR7
    Genetic Association Database (GAD): DHCR7
    Human Genome Epidemiology (HuGE) Navigator: DHCR7 (18 documents)

    Export disorders for DHCR7 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DHCR7 gene, integrated from 10 sources (see all 179) (see top 10):
    (articles sorted by number of sources associating them with DHCR7)

    1. Mutations in the human sterol delta 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. (PubMed id 9634533)1, 2, 3, 9 Wassif C.A.... Porter F.D. (Am. J. Hum. Genet. 1998)
    2. Molecular cloning and expression of the human delta7-sterol reductase. (PubMed id 9465114)1, 2, 3 Moebius F.F.... Glossmann H. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    3. Frequency gradients of DHCR7 mutations in patients with Smith-Lemli- Opitz syndrome in Europe: evidence for different origins of common mutations. (PubMed id 11175299)1, 2, 9 Witsch-Baumgartner M.... Utermann G. (Eur. J. Hum. Genet. 2001)
    4. Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. (PubMed id 17965227)1, 4, 9 Witsch-Baumgartner M....Utermann G. (J. Med. Genet. 2008)
    5. Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). (PubMed id 15954111)1, 2, 9 Waye J.S.... Porter F.D. (Hum. Mutat. 2005)
    6. Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome. (PubMed id 11427181)1, 2, 9 Jira P.E....Waterham H.R. (Ann. Hum. Genet. 2001)
    7. Smith-Lemli-Opitz syndrome is caused by mutations in the 7- dehydrocholesterol reductase gene. (PubMed id 9683613)1, 2, 9 Waterham H.R.... Wanders R.J.A. (Am. J. Hum. Genet. 1998)
    8. SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. (PubMed id 16497572)1, 4, 9 Ciara E....Krajewska-Walasek M. (Eur J Med Genet 2006)
    9. Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. (PubMed id 15286151)1, 4, 9 Witsch-Baumgartner M....Utermann G. (J. Med. Genet. 2004)
    10. DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. (PubMed id 15521979)1, 4, 9 Ciara E....Krajewska-Walasek M. (Clin. Genet. 2004)
    11. Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome. (PubMed id 11503168)1, 4, 9 Nowaczyk M.J....Waye J.S. (Am. J. Med. Genet. 2001)
    12. Mutational spectrum in the Delta7-sterol reductase gene and genotype- phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. (PubMed id 10677299)1, 2, 9 Witsch-Baumgartner M.... Utermann G. (Am. J. Hum. Genet. 2000)
    13. The human lamin B receptor/sterol reductase multigene family. (PubMed id 9878250)1, 2, 9 Holmer L.... Worman H.J. (Genomics 1998)
    14. Identification of three patients with a very mild form of Smith- Lemli-Opitz syndrome. (PubMed id 12949967)1, 2, 9 Langius F.A.... Poll-The B.T. (Am. J. Med. Genet. A 2003)
    15. Carrier frequency of the common mutation IVS8-1G&gt;C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. (PubMed id 11161831)1, 4, 9 Battaile K.P....Steiner R.D. (Mol. Genet. Metab. 2001)
    16. Mutations in the delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. (PubMed id 9653161)1, 2, 9 Fitzky B.U.... Moebius F.F. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    17. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    18. Common genetic determinants of vitamin D insufficiency: a genome-wide association study. (PubMed id 20541252)1, 4 Wang T.J....Spector T.D. (Lancet 2010)
    19. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    20. Determination of genetic predisposition to patent ductus arteriosus in preterm infants. (PubMed id 19336370)1, 4 Dagle J.M....Murray J.C. (Pediatrics 2009)
    21. Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome. (PubMed id 19598235)1, 4 Chakrabarti B....Baron-Cohen S. (Autism Res 2009)
    22. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (J. Lipid Res. 2008)
    23. Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery. (PubMed id 17855807)1, 4 Steffen K.M....Murray J.C. (J Perinatol 2007)
    24. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    25. Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. (PubMed id 10995508)1, 2 Krakowiak P.A.... Porter F.D. (Am. J. Med. Genet. 2000)
    26. Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. (PubMed id 17441222)1, 9 Waye J.S....Nowaczyk M.J. (Prenat. Diagn. 2007)
    27. Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays. (PubMed id 19390132)1, 9 KolejA!kovA! K....Chandoga J. (Gen. Physiol. Biophys. 2009)
    28. Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. (PubMed id 15979035)1, 9 Cardoso M.L....Vilarinho L. (Mol. Genet. Metab. 2005)
    29. A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement. (PubMed id 19365639)1, 9 SzabA^ G.P....OlA!h E. (Eur. J. Pediatr. 2010)
    30. Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy. (PubMed id 15776424)1, 9 Witsch-Baumgartner M....Utermann G. (Hum. Mutat. 2005)
    31. Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome. (PubMed id 19406241)1, 9 Matabosch X....Shackleton C. (J. Steroid Biochem. Mol. Biol. 2009)
    32. Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. (PubMed id 10814720)1, 9 Yu H....Tint G.S. (Hum. Mol. Genet. 2000)
    33. Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis. (PubMed id 11078571)1, 9 LAPffler J....Utermann G. (Am. J. Med. Genet. 2000)
    34. Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome. (PubMed id 11111101)1, 9 Waterham H.R. and Wanders R.J. (Biochim. Biophys. Acta 2000)
    35. Induction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7. (PubMed id 19940018)1, 9 Zwerger M....Herrmann H. (Mol. Biol. Cell 2010)
    36. Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. (PubMed id 18285838)6, 9 Porter F.D. (Eur. J. Hum. Genet. 2008)
    37. Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype. (PubMed id 11857552)1, 9 Prasad C....Nowaczyk M.J. (Am. J. Med. Genet. 2002)
    38. DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. (PubMed id 11298379)1, 9 Nowaczyk M.J....Waye J.S. (Am. J. Med. Genet. 2001)
    39. Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature. (PubMed id 18249054)1, 9 Jezela-Stanek A....Krajewska-Walasek M. (Eur J Med Genet 2008)
    40. Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome. (PubMed id 18006960)1, 9 Jong Hee Chae ....Kim J.W. (J. Child Neurol. 2007)
    41. De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome. (PubMed id 17595012)1, 9 Waye J.S....Langlois S. (Am. J. Med. Genet. A 2007)
    42. Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. (PubMed id 14981719)1, 9 Nowaczyk M.J....Waye J.S. (Am. J. Med. Genet. A 2004)
    43. Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. (PubMed id 14556255)1, 9 Mueller C....Bay C. (Am. J. Med. Genet. A 2003)
    44. DHCR7 and Smith-Lemli-Opitz syndrome. (PubMed id 11767235)1, 9 Nowaczyk M.J....Waye J.S. (Clin Invest Med 2001)
    45. Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G--&gt;C genotype. (PubMed id 11562938)1, 9 Nowaczyk M.J....Porter F.D. (Am. J. Med. Genet. 2001)
    46. Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi. (PubMed id 10719329)1, 9 Linck L.M....Steiner R.D. (Prenat. Diagn. 2000)
    47. Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations. (PubMed id 10602371)1, 9 De Brasi D....Andria G. (Eur. J. Hum. Genet. 1999)
    48. Polymorphisms in genetics of vitamin D metabolism confer susceptibility to ocular BehAset disease in a Chinese Han population. (PubMed id 24184224)1 Fang J....Yang P. (Am. J. Ophthalmol. 2014)
    49. Enrichment of vitamin D response elements in RA-associated loci supports a role for vitamin D in the pathogenesis of RA. (PubMed id 23636220)1 Yarwood A....Eyre S. (Genes Immun. 2013)
    50. Genetic analyses reveal a role for vitamin D insufficiency in HCV-associated hepatocellular carcinoma development. (PubMed id 23734184)1 Lange C.M.... . (PLoS ONE 2013)
    51. Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]. (PubMed id 23321614)1 Witsch-Baumgartner M....Haas D. (Eur. J. Hum. Genet. 2013)
    52. Genetic variation in the vitamin d pathway in relation to risk of prostate cancer--results from the breast and prostate cancer cohort consortium. (PubMed id 23377224)1 Mondul A.M....Albanes D. (amp 2013)
    53. Association of vitamin D serum levels and its common genetic determinants, with severity of liver fibrosis in genotype 1 chronic hepatitis C patients. (PubMed id 23730842)1 Petta S....CraxA- A. (J. Viral Hepat. 2013)
    54. Associations between common variants in GC and DHCR7/NADSYN1 and vitamin D concentration in Chinese Hans. (PubMed id 21972121)1 Lu L....Lin X. (Hum. Genet. 2012)
    55. MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity. (PubMed id 22678362)1 Stehling O.... Lill R. (Science 2012)
    56. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    57. High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey. (PubMed id 22211794)1 Kalb S....Witsch-Baumgartner M. (Clin. Genet. 2012)
    58. Associations between polymorphisms related to calcium metabolism and human height: the TromsA, Study. (PubMed id 22390397)1 Jorde R....Grimnes G. (Ann. Hum. Genet. 2012)
    59. DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model. (PubMed id 22182693)1 Xu L....Korade Z. (Neurobiol. Dis. 2012)
    60. The GC, CYP2R1 and DHCR7 genes are associated with vitamin D levels in northeastern Han Chinese children. (PubMed id 22801813)1 Zhang Y....Ren L. (Swiss Med Wkly 2012)
    61. ANKRD55 and DHCR7 are novel multiple sclerosis risk loci. (PubMed id 22130326)1 Alloza I....Vandenbroeck K. (Genes Immun. 2012)
    62. Smith-Lemli-Opitz syndrome among Arabs. (PubMed id 21696385)1 Al-Owain M....Al-Aama J.Y. (Clin. Genet. 2012)
    63. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    64. Common genetic variation in vitamin D metabolism is associated with liver stiffness. (PubMed id 22576297)1 GrA1nhage F....Lammert F. (Hepatology 2012)
    65. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    66. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    67. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    68. Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes. (PubMed id 21441443)1 Cooper J.D....Todd J.A. (Diabetes 2011)
    69. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    70. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    71. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    72. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    73. Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome. (PubMed id 20635399)1 Koo G....Porter F.D. (Am. J. Med. Genet. A 2010)
    74. Genome-wide association study of circulating vitamin D levels. (PubMed id 20418485)1 Ahn J....Albanes D. (Hum. Mol. Genet. 2010)
    75. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    76. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
    77. Large-scale proteomics analysis of the human kinome. (PubMed id 19369195)2 Oppermann F.S.... Daub H. (Mol. Cell. Proteomics 2009)
    78. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    79. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (Mol. Cell 2008)
    80. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M....Figeys D. (Mol. Syst. Biol. 2007)
    81. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    82. How many drug targets are there? (PubMed id 17139284)7 Overington J.P....Hopkins A.L. (Nat Rev Drug Discov 2006)
    83. Drugs, their targets and the nature and number of drug targets. (PubMed id 17016423)7 Imming P....Meyer A. (Nat Rev Drug Discov 2006)
    84. Large-scale analysis of the human ubiquitin-related proteome. (PubMed id 16196087)1 Matsumoto M....Nakayama K.I. (Proteomics 2005)
    85. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    86. Fetus with renal agenesis and Smith-Lemli-Opitz syndrome. (PubMed id 12833423)1 Nowaczyk M.J....Sirkin W.L. (Am. J. Med. Genet. A 2003)
    87. Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G&gt;C mutation in African Americans. (PubMed id 12794707)1 Wright B.S....Nowaczyk M.J. (Am. J. Med. Genet. A 2003)
    88. Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome. (PubMed id 12116246)1 Nezarati M.M....Graham G.E. (Am. J. Med. Genet. 2002)
    89. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    90. Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. (PubMed id 7560069)1 Shefer S....Holick M.F. (J. Clin. Invest. 1995)
    91. Smith-Lemli-Opitz Syndrome (PubMed id 20301322)1 Pagon R.A....Stephens K. (1993)
    92. Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice. (PubMed id 17408495)9 Yu H....Patel S.B. (BMC Dev. Biol. 2007)
    93. Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase. (PubMed id 16687448)9 Koide T....Cho K.W. (Development 2006)
    94. Partial rescue of neonatal lethality of Dhcr7 null mice by a nestin promoter-driven DHCR7 transgene expression. (PubMed id 15862627)9 Yu H....Patel S.B. (Brain Res. Dev. Brain Res. 2005)
    95. Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families. (PubMed id 16181459)9 Anstey A.V....Bowden P.E. (Br. J. Dermatol. 2005)
    96. Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient. (PubMed id 12224080)9 Loeffler J....Witsch-Baumgartner M. (Prenat. Diagn. 2002)
    97. Molecular consequences of altered neuronal cholesterol biosynthesis. (PubMed id 18951487)9 Korade Z....Mirnics K. (J. Neurosci. Res. 2009)
    98. A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome. (PubMed id 16392899)9 Romano F....Travali S. (Mol. Diagn. 2005)
    99. Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. (PubMed id 15464432)9 Ginat S....Steiner R.D. (Mol. Genet. Metab. 2004)
    100. Smith-Lemli-Opitz syndrome and the DHCR7 gene. (PubMed id 12914579)9 Jira P.E....Wevers R.A. (Ann. Hum. Genet. 2003)
    101. 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. (PubMed id 15670717)9 Correa-Cerro L.S. and Porter F.D. (Mol. Genet. Metab. 2005)
    102. Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis. (PubMed id 11001806)9 Battaile K.P. and Steiner R.D. (Mol. Genet. Metab. 2000)
    103. A simple PCR-based assay allows detection of a common mutation, IVS8-1G--&gt;C, in DHCR7 in Smith-Lemli-Opitz syndrome. (PubMed id 10627944)9 Battaile K.P....Steiner R.D. (Genet. Test. 1999)
    104. Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. (PubMed id 20014133)9 Tierney E....Porter F.D. (Am. J. Med. Genet. A 2010)
    105. Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome. (PubMed id 16678134)9 Weinhofer I....Berger J. (Biochem. Biophys. Res. Commun. 2006)
    106. Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. (PubMed id 15896653)9 Wassif C.A....Porter F.D. (Mol. Genet. Metab. 2005)
    107. A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly. (PubMed id 15013448)9 Shim Y.H....Paik Y.K. (Biochem. Biophys. Res. Commun. 2004)
    108. A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis. (PubMed id 20052364)9 Ko J.S....Kim J.W. (J. Korean Med. Sci. 2010)
    109. Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes. (PubMed id 19449411)9 Zechi-Ceide R.M....Richieri-Costa A. (Am. J. Med. Genet. A 2009)
    110. Ultraviolet A sensitivity in Smith-Lemli-Opitz syndrome: Possible involvement of cholesta-5,7,9(11)-trien-3 beta-ol. (PubMed id 16814115)9 Chignell C.F....He Y.Y. (amp 2006)
    111. Immunohistochemical and microarray analyses of a mouse model for the smith-lemli-opitz syndrome. (PubMed id 16280635)9 Waage-Baudet H....Sulik K.K. (Dev. Neurosci. 2005)
    112. R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients. (PubMed id 16044199)9 Matsumoto Y....Matsuura S. (J. Hum. Genet. 2005)
    113. Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome. (PubMed id 15005800)9 Yu H....Patel S.B. (BMC Dev. Biol. 2004)
    114. Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome. (PubMed id 12270273)9 Patrono C....Santorelli F.M. (Mol. Cell. Probes 2002)
    115. Mutations in the human DHCR7 gene. (PubMed id 11241839)9 Witsch-Baumgartner M....Utermann G. (Hum. Mutat. 2001)
    116. Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smith-Lemli-Opitz syndrome-related protein. (PubMed id 10329655)9 Bae S.H....Paik Y.K. (J. Biol. Chem. 1999)
    117. Biochemical variants of Smith-Lemli-Opitz syndrome. (PubMed id 10405455)9 Neklason D.W....Metherall J.E. (Am. J. Med. Genet. 1999)
    118. Cholesterol biosynthesis inhibited by BM15.766 induces holoprosencephaly in the rat. (PubMed id 9358606)9 Kolf-Clauw M....Roux C. (Teratology 1997)
    119. Inhibition of 7-dehydrocholesterol reductase by the teratogen AY9944: a rat model for Smith-Lemli-Opitz syndrome. (PubMed id 8987154)9 Kolf-Clauw M....Roux C. (Teratology 1996)
    120. Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism. (PubMed id 20104611)9 Weaver D.D....Muenke M. (Am J Med Genet C Semin Med Genet 2010)
    121. Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. (PubMed id 20067919)9 Jiang X.S....Porter F.D. (Hum. Mol. Genet. 2010)
    122. Colony-stimulating factor-1 (CSF-1) delivers a proatherogenic signal to human macrophages. (PubMed id 19004987)9 Irvine K.M....Sweet M.J. (J. Leukoc. Biol. 2009)
    123. [Smith-Lemli-Opitz syndrome--case report, diagnostics and therapeutic options]. (PubMed id 19856245)9 OberthA1r A....Vierzig A. (Z Geburtshilfe Neonatol 2009)
    124. Oral manifestations of Smith-Lemli-Opitz syndrome: a paediatric case report. (PubMed id 19886368)9 Pizzo G....Giuliana G. (Eur J Paediatr Dent 2008)
    125. Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome. (PubMed id 18442819)9 Liss J....Rebala K. (Fertil. Steril. 2008)
    126. Malignant intracranial germinoma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development. (PubMed id 18776762)9 Oslejskova H....Valik D. (J. Pediatr. Hematol. Oncol. 2008)
    127. [The Smith-Lemli-Opitz syndrome--case report, early diagnosis]. (PubMed id 17650909)9 Walencka Z....Sikora J. (Ginekol. Pol. 2007)
    128. Differential effects of cholesterol and 7-dehydrocholesterol on the ligand binding activity of the hippocampal serotonin(1A) receptor: implications in SLOS. (PubMed id 17493586)9 Singh P....Chattopadhyay A. (Biochem. Biophys. Res. Commun. 2007)
    129. Photosensitivity in Smith-Lemli-Opitz syndrome: a flux balance analysis of altered metabolism. (PubMed id 18188427)9 Eapen B.R. (Bioinformation 2007)
    130. Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic. (PubMed id 17994283)9 Blahakova I....Kozak L. (J. Inherit. Metab. Dis. 2007)
    131. Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). (PubMed id 17497248)9 Haas D....Burgard P. (J. Inherit. Metab. Dis. 2007)
    132. Differential effects of cholesterol and 7-dehydrocholesterol on ligand binding of solubilized hippocampal serotonin1A receptors: implications in SLOS. (PubMed id 17904101)9 Chattopadhyay A....Vairamani M. (Biochem. Biophys. Res. Commun. 2007)
    133. A dual role for 7-dehydrocholesterol reductase in regulating Hedgehog signalling? (PubMed id 17008445)9 Bijlsma M.F....Spek C.A. (Development 2006)
    134. Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. (PubMed id 16451140)9 Jezela-Stanek A....Krajewska-Walasek M. (Clin. Genet. 2006)
    135. Drug-induced activation of SREBP-controlled lipogenic gene expression in CNS-related cell lines: marked differences between various antipsychotic drugs. (PubMed id 17052361)9 FernA...Steen V.M. (BMC Neurosci 2006)
    136. DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients? (PubMed id 16906538)9 Nowaczyk M.J....Douketis J.D. (Am. J. Med. Genet. A 2006)
    137. Cholesterol homeostasis in development: the role of Xenopus 7-dehydrocholesterol reductase (Xdhcr7) in neural development. (PubMed id 16752377)9 Tadjuidje E. and Hollemann T. (Dev. Dyn. 2006)
    138. Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. (PubMed id 16446309)9 Correa-Cerro L.S....Porter F.D. (Hum. Mol. Genet. 2006)
    139. Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol. (PubMed id 16097001)9 Shinawi M....Potocki L. (Am. J. Med. Genet. A 2005)
    140. Estrogen receptor alpha and beta heterodimers exert unique effects on estrogen- and tamoxifen-dependent gene expression in human U2OS osteosarcoma cells. (PubMed id 15802376)9 Monroe D.G....Spelsberg T.C. (Mol. Endocrinol. 2005)
    141. [Smith-Lemli-Opitz syndrome]. (PubMed id 16327658)9 Pelluard-NehmAc F....Wolf C. (Ann Pathol 2005)
    142. Recent insights into the Smith-Lemli-Opitz syndrome. (PubMed id 16207203)9 Yu H. and Patel S.B. (Clin. Genet. 2005)
    143. DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome. (PubMed id 15805162)9 Correa-Cerro L.S....Porter F.D. (J. Med. Genet. 2005)
    144. Cholesterol-producing transgenic Caenorhabditis elegans lives longer due to newly acquired enhanced stress resistance. (PubMed id 15707967)9 Lee E.Y....Paik Y.K. (Biochem. Biophys. Res. Commun. 2005)
    145. DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients. (PubMed id 15952211)9 Scalco F.B....Moretti-Ferreira D. (Am. J. Med. Genet. A 2005)
    146. Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers. (PubMed id 15514417)9 Lalovic A....Turecki G. (Am J Psychiatry 2004)
    147. Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases. (PubMed id 14735596)9 Goldenberg A....Cormier-Daire V. (Am. J. Med. Genet. A 2004)
    148. Investigation of completed suicide and genes involved in cholesterol metabolism. (PubMed id 15023477)9 Lalovic A....Turecki G. (J Affect Disord 2004)
    149. Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism. (PubMed id 14659996)9 Waage-Baudet H....Sulik K.K. (Int. J. Dev. Neurosci. 2003)
    150. Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity. (PubMed id 12760743)9 Moebius F.F....Glossmann H. (Biochem. J. 2003)
    151. Sterols in blood of normal and Smith-Lemli-Opitz subjects. (PubMed id 11352988)9 Ruan B....Schroepfer G.J. (J. Lipid Res. 2001)
    152. Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorder. (PubMed id 11471183)9 Witsch-Baumgartner M....Neuhaus C. (Am. J. Med. Genet. 2001)
    153. Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. (PubMed id 11745994)9 Nowaczyk M.J....Porter F.D. (Am. J. Med. Genet. 2001)
    154. The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology. (PubMed id 11453964)9 Nowaczyk M.J. and Waye J.S. (Clin. Genet. 2001)
    155. Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. (PubMed id 11471166)9 Nowaczyk M.J....Porter F.D. (Am. J. Med. Genet. 2001)
    156. Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome. (PubMed id 10899806)9 Tierney E....Kelley R.I. (Ment Retard Dev Disabil Res Rev 2000)
    157. Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome. (PubMed id 11186897)9 Nowaczyk M.J....Kelley R.E. (Am. J. Med. Genet. 2000)
    158. Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome. (PubMed id 10748414)9 Patrono C....Santorelli F.M. (Am. J. Med. Genet. 2000)
    159. Role of cholesterol in embryonic development. (PubMed id 10799401)9 Roux C....Citadelle D. (Am. J. Clin. Nutr. 2000)
    160. Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency. (PubMed id 10443904)9 Shackleton C.H....Kelley R. (Steroids 1999)
    161. Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. (PubMed id 9678700)9 Ryan A.K....Burn J. (J. Med. Genet. 1998)
    162. Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group. (PubMed id 8863875)9 Guzzetta V....Andria G. (Acta Paediatr. 1996)
    163. Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? (PubMed id 8989473)9 Kelley R.L....Muenke M. (Am. J. Med. Genet. 1996)
    164. First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency). (PubMed id 8726234)9 Mills K....Clayton P.T. (Pediatr. Res. 1996)

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