DHCR7 Gene
protein-coding GIFtS: 67
GCID: GC11M071145
|
|
7-dehydrocholesterol reductase(Previous name: Smith-Lemli-Opitz syndrome )
(Previous symbol: SLOS)
| |
Aliases
for DHCR7 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| 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 1.3.1.213 8 | | EC 1.3.18 | | Smith-Lemli-Opitz Syndrome1 | | |
Export aliases for DHCR7 gene to outside databasesPrevious GC identifers: GC11M073477 GC11M072685 GC11M071368 GC11M070871 GC11M070823 GC11M067439 |
Summaries
for DHCR7 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for DHCR7:
This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversionof 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes tothe 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 serum7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly ofsecond and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normalintelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the sameprotein.(provided by RefSeq, Aug 2009)
UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7Function: Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC)
 summary
for DHCR7: 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)
|
Genomic Views
for DHCR7 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000011.9 NC_018922.1 NT_167190.1
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for DHCR7
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 11q13.4DHCR7 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11M071145: view genomic region
(about GC identifiers)
Start:
|
71,139,239 bp from pter |
End:
|
71,163,914 bp from pter |
Size:
|
24,676 bases |
Orientation:
|
minus strand |
|
Proteins
for DHCR7 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7 (See
protein sequence)Recommended Name: 7-dehydrocholesterol reductase Size: 475 amino acids; 54489 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Secondary accessions: B2R6Z2 O60492 O60717Explore the universe of human proteins at neXtProt for DHCR7: NX_Q9UBM7
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UBM7
4/11 DME Specific Peptides for DHCR7 (Q9UBM7) (see all 11)
DHCR7 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001157289.1 NP_001351.2
ENSEMBL proteins: ENSP00000432256 ENSP00000384739 ENSP00000347717 ENSP00000435011 ENSP00000435956 ENSP00000437328 ENSP00000435047 ENSP00000435668 ENSP00000435707 ENSP00000432589 ENSP00000435058 ENSP00000436007 Reactome Protein details: Q9UBM7
Human Recombinant Protein Products for DHCR7:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
DHCR7 for ontologies About GeneDecksing
DHCR7 Antibody Products:
Assay Products for DHCR7: |
Protein
Domains /
Families
for DHCR7 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DHCR7 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9UBM7ProtoNet protein and cluster: Q9UBM7 2 Blocks protein families: IPB001171 ERG4/ERG24 ergosterol biosynthesis protein IPB011024 Gamma-crystallin related
UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7Similarity: Belongs to the ERG4/ERG24 family |
Function
for DHCR7 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: DHCR7_HUMAN, Q9UBM7Function: 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 nuclearmembrane,ubiquitously expressed,most abundant in adrenals,liver,testis,brain,LBR superfamily,catalyzing the ultimatestep of cholesterol biosynthesis,deficient in SLOS
Enzyme Numbers (IUBMB): EC 1.3.1.211 2 EC 1.3.12
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016628 | oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor |
-- | -- | | GO:0047598 | 7-dehydrocholesterol reductase activity |
IDA | 9465114 |
DHCR7 for ontologies About GeneDecksing
Phenotypes:
2 GenomeRNAi human phenotypes for DHCR7:
13 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Dhcr7):
DHCR7 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-outs for DHCR7: Dhcr7tm1Gst Dhcr7tm1Fdp
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DHCR7 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DHCR7 (see all 2)
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 | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DHCR7 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DHCR7 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHCR7 |
|
Pathways & Interactions
for DHCR7 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | cholesterol biosynthesis III (via desmosterol) | | | 2 | Metabolism | | | 3 | Cholesterol biosynthesis | | | 4 | Regulation of Cholesterol Biosynthesis by SREBP (SREBF) | | | 5 | Expression of Mevalonate Kinase (MVK) | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5  BioSystems Pathways for DHCR7
5/6 
Reactome Pathways for DHCR7 (see all 6)
2 
Kegg Pathways (Kegg details for DHCR7):
UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7Pathway: Steroid biosynthesis; cholesterol biosynthesis
DHCR7 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DHCR7
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/139 Interacting proteins for DHCR7 (Q9UBM72, 3 ENSP000003477174) via UniProtKB, MINT, STRING, and/or I2D (see all 139)
About this table
Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table
DHCR7 for ontologies About GeneDecksing
|
Drugs & Compounds
for DHCR7 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
DHCR7 for compounds About GeneDecksing
Compounds for DHCR7 available from Tocris Bioscience About this table
| Compound | Action |
CAS
# |
|---|
| AY 9944 dihydrochloride | Inhibitor of hedgehog (Hh) signaling. Inhibits delta7-dehydrocholesterol reductase | [366-93-8] |
10 HMDB Compounds for DHCR7 About this table
1 DrugBank Compound for DHCR7 About this table
10/12 Novoseek 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) |
Search CenterWatch for drugs/clinical trials and news about DHCR7
|
Transcripts
for DHCR7 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
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_00136013 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000534795 ENST00000407721 ENST00000355527(uc001oqk.3 uc001oql.3)
ENST00000533800 ENST00000525137 ENST00000524694 ENST00000527316 ENST00000534701
ENST00000526780 ENST00000525346 ENST00000531364 ENST00000529990 ENST00000527452
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DHCR7 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DHCR7 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see first 1): DHCR7 (NM_001360 NM_001163817) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DHCR7 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DHCR7 |
Additional cDNA sequence: AF034544.1 AF062481.1 AF067127.1 AF096305.1 AK289497.1 AK303881.1 AK309625.1 AK312775.1 BC000054.2 19 DOTS entries: DT.100647914 DT.418224 DT.100647904 DT.95326177 DT.100647915 DT.120742723 DT.100837843 DT.100647913 DT.100671595 DT.120742731 DT.91758253 DT.95181639 DT.95357168 DT.100033172 DT.120742718 DT.40108063 DT.95290620 DT.95357166 DT.95357178 24/440 AceView cDNA sequences (see all 440): BE799908 BU848891 AI521555 AA343352 BU684875 AA282516 AA861245 BU931469 AU125589 BU632366 AA070075 CA454504 AI610807 BM560287 BU846251 AW249784 BI835977 AI192049 AL118630 AI682081 BU850080 AW806469 CR609879 BM548686
GeneLoc Exon Structure
5/11 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
|
Expression
for DHCR7 gene
(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 GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, 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
CGAP TAG: TCGTTTCCTT
About this image
See DHCR7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DHCR7
SOURCE GeneReport for Unigene cluster: Hs.503134
UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7Tissue specificity: Most abundant in adrenal gland, liver, testis, and brain
SABiosciences Expression via Pathway-Focused PCR Array including DHCR7: | Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat |
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DHCR7
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DHCR7 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DHCR7 | | | QIAGEN 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
for DHCR7 gene
(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 6/21 species (see all 21) About this table
ENSEMBL Gene Tree for DHCR7 (if available)
TreeFam Gene Tree for DHCR7 (if available) |
Paralogs
for DHCR7 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DHCR7 gene
- LBR2 TM7SF22
2 SIMAP similar genes for DHCR7 using alignment to 11 protein entries: DHCR7_HUMAN (see all proteins):LBR TM7SF2
DHCR7 for paralogs About GeneDecksing
|
Genomic Variants
for DHCR7 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 11 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DHCR7 (71139239 - 71163914 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DHCR7: --
Human Gene Mutation Database (HGMD): DHCR7
Locus Specific Mutation Databases (LSDB): DHCR7
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DHCR7 |
|
Disorders
/ Diseases
for DHCR7 gene
(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.)
About This Section
|
DHCR7 for disorders About GeneDecksing
OMIM gene information: 602858
OMIM disorders: 270400
UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7
Defects in DHCR7 are the cause of Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]; also known as SLO syndromeor RSH syndrome. SLOS is an autosomal recessive frequent inborn disorder of sterol metabolism with characteristiccongenital malformations and dysmorphias. All patients suffer from mental retardation. Children with SLOS haveelevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively highfrequency: 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
20/24  diseases for DHCR7 (see all 24): About MalaCardssmith-lemli-opitz syndrome holoprosencephaly syndactyly cholesterol
craniofacial anomalies atrioventricular septal defect attention deficit hyperactivity disorder cleft lip/palate
patent ductus arteriosus developmental disabilities cleft lip mental retardation syndrome
intellectual disability myotonic dystrophy renal agenesis ectrodactyly
germinoma hirschsprung's disease polydactyly microcephaly
5 diseases from the University of Copenhagen DISEASES database for DHCR7:Smith-Lemli-Opitz syndrome Intellectual disability Syndactyly Holoprosencephaly
Atrioventricular septal defect 9 Novoseek 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
Smith-Lemli-Opitz Syndrome
Genetic Association Database (GAD): DHCR7
Human Genome Epidemiology (HuGE) Navigator: DHCR7 (18 documents)
Export disorders for DHCR7 gene to outside databases
|
Publications
for DHCR7 gene (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
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PubMed articles for DHCR7 gene, integrated from 9 sources (see all 169):
(articles sorted by number of sources associating them with DHCR7) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (1998)
- Molecular cloning and expression of the human delta7-sterol reductase. (PubMed id 9465114)1, 2, 3 Moebius F.F.... Glossmann H. (1998)
- 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. (2001)
- 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. (2005)
- 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. (2001)
- 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. (1998)
- Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. (PubMed id 15286151)1, 4, 9 Witsch-Baumgartner M....Utermann G. (2004)
- 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. (2004)
- 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. (2001)
- 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. (2000)
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External Searches for DHCR7 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing DHCR7 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing DHCR7 gene
(According to HUGE)
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Specialized Databases showing DHCR7 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for DHCR7 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DHCR7 |
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| Patent Information for DHCR7 gene:
Search GeneIP for patents involving DHCR7
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for DHCR7 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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