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DHCR24 Gene

protein-coding   GIFtS: 66
GCID: GC01M055315

24-Dehydrocholesterol Reductase

  See DHCR24-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
24-Dehydrocholesterol Reductase1 2 3     Delta(24)-Sterol Reductase2
Diminuto/Dwarf1 Homolog2 3     Desmosterol-To-Cholesterol Enzyme2
3-Beta-Hydroxysterol Delta-24-Reductase2 3     Seladin 12
KIAA00183 5     seladin-12
3 Beta-Hydroxysterol Delta 24-Reductase2     Selective AD Indicator 12
DCE2     EC 1.3.1.723
Nbla036462     Seladin-13
SELADIN12     

External Ids:    HGNC: 28591   Entrez Gene: 17182   Ensembl: ENSG000001161337   OMIM: 6064185   UniProtKB: Q153923   

Export aliases for DHCR24 gene to outside databases

Previous GC identifers: GC01M055152 GC01M054217 GC01M054659 GC01M054685 GC01M055027 GC01M053429


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DHCR24 Gene:
This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of
the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader
sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been
associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer
disease patients and overexpression has been observed in adrenal gland cancer cells. (provided by RefSeq, Jul
2008)

GeneCards Summary for DHCR24 Gene:
DHCR24 (24-dehydrocholesterol reductase) is a protein-coding gene. Diseases associated with DHCR24 include desmosterolosis, and spasticity. GO annotations related to this gene include peptide antigen binding and enzyme binding.

UniProtKB/Swiss-Prot: DHC24_HUMAN, Q15392
Function: Catalyzes the reduction of the delta-24 double bond of sterol intermediates. Protects cells from
oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. Also protects
against amyloid-beta peptide-induced apoptosis

Gene Wiki entry for DHCR24 (24-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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the DHCR24 gene promoter:
         AhR   AREB6   Pax-5   AML1a   p53   GCNF   Pax-4a   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 6): DHCR24 promoter sequence
   Search Chromatin IP Primers for DHCR24

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DHCR24


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

Entrez Gene cytogenetic band: 1p32.3   Ensembl cytogenetic band:  1p32.3   HGNC cytogenetic band: 1p32.3

DHCR24 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DHCR24 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M055315:  view genomic region     (about GC identifiers)

Start:
55,315,300 bp from pter      End:
55,352,921 bp from pter
Size:
37,622 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, and/or antibodies-online,
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, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DHC24_HUMAN, Q15392 (See protein sequence)
Recommended Name: Delta(24)-sterol reductase precursor  
Size: 516 amino acids; 60101 Da
Cofactor: FAD
Sequence caution: Sequence=BAA02806.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: D3DQ51 Q9HBA8

Explore the universe of human proteins at neXtProt for DHCR24: NX_Q15392

Explore proteomics data for DHCR24 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys254, Lys301, Lys313, Lys367, Lys376, Lys492, Lys496, Lys509
  • Modification sites at PhosphoSitePlus

  • See DHCR24 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055577.1  
    ENSEMBL proteins: 
     ENSP00000360316   ENSP00000416585   ENSP00000440191   ENSP00000439852  
    Reactome Protein details: Q15392

    DHCR24 Human Recombinant Protein Products:

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    OriGene MassSpec for DHCR24
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    GenScript Custom Purified and Recombinant Proteins Services for DHCR24
    Novus Biologicals DHCR24 Protein
    Novus Biologicals DHCR24 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DHCR24

     
    Search eBioscience for Proteins for DHCR24 

     
    antibodies-online proteins for DHCR24 (3 products) 

     
    antibodies-online peptides for DHCR24

    DHCR24 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals DHCR24 Antibodies
    Abcam antibodies for DHCR24
    Cloud-Clone Corp. Antibodies for DHCR24
    ThermoFisher Antibody for DHCR24
    LSBio Antibodies in human, mouse, rat for DHCR24
    antibodies-online antibodies for DHCR24 (32 products) 

    DHCR24 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 DHCR24
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DHCR24
    Cloud-Clone Corp. CLIAs for DHCR24
    Search eBioscience for ELISAs for DHCR24 
    antibodies-online kits for DHCR24 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR016166 FAD-bd_2
     IPR006094 Oxid_FAD_bind_N
     IPR016169 CO_DH_flavot_FAD-bd_sub2

    Graphical View of Domain Structure for InterPro Entry Q15392

    ProtoNet protein and cluster: Q15392

    UniProtKB/Swiss-Prot: DHC24_HUMAN, Q15392
    Similarity: Belongs to the FAD-binding oxidoreductase/transferase type 4 family
    Similarity: Contains 1 FAD-binding PCMH-type domain


    Find genes that share domains with DHCR24           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DHC24_HUMAN, Q15392
    Function: Catalyzes the reduction of the delta-24 double bond of sterol intermediates. Protects cells from
    oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. Also protects
    against amyloid-beta peptide-induced apoptosis
    Catalytic activity: 5-alpha-cholest-7-en-3-beta-ol + NADP(+) = 5-alpha-cholesta-7,24-dien-3-beta-ol + NADPH

         Enzyme Number (IUBMB): EC 1.3.1.721

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0008762UDP-N-acetylmuramate dehydrogenase activity IEA--
    GO:0016491oxidoreductase activity ----
    GO:0016614oxidoreductase activity, acting on CH-OH group of donors ----
    GO:0016628oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IDA11519011
         
    Find genes that share ontologies with DHCR24           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dhcr24):
     adipose tissue  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  integument 
     mortality/aging  reproductive system 

    Find genes that share phenotypes with DHCR24           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DHCR24
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DHCR24

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DHCR24
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DHCR24

    miRNA
    Products:
        
    miRTarBase miRNAs that target DHCR24:
    hsa-mir-92a-3p (MIRT049129), hsa-mir-484 (MIRT042102), hsa-mir-18a-3p (MIRT040799), hsa-mir-99a-5p (MIRT048668), hsa-mir-192-5p (MIRT026872), hsa-mir-124-3p (MIRT002577), hsa-mir-155-5p (MIRT020936), hsa-mir-215-5p (MIRT024774), hsa-mir-24-3p (MIRT030596), hsa-mir-335-5p (MIRT018869)

    Block miRNA regulation of human, mouse, rat DHCR24 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DHCR24 (see all 34):
    hsa-miR-345 hsa-miR-642a hsa-miR-631 hsa-miR-1914* hsa-miR-486-3p hsa-miR-3921 hsa-miR-124 hsa-miR-532-5p
    SwitchGear 3'UTR luciferase reporter plasmidDHCR24 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DHCR24
    Predesigned siRNA for gene silencing in human, mouse, rat DHCR24

    Gene Editing
    Products:
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    Clone
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    OriGene clones in human, mouse for DHCR24 (see all 6)
    OriGene ORF clones in mouse, rat for DHCR24
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DHCR24 (NM_014762)
    Sino Biological Human cDNA Clone for DHCR24
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DHCR24
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DHCR24

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for DHCR24 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHCR24


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DHC24_HUMAN, Q15392: Endoplasmic reticulum membrane; Single-pass membrane protein. Golgi apparatus membrane;
    Single-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    nucleus5
    cytoskeleton2
    cytosol2
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005634nucleus IDA15577914
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum IDA11007892
    GO:0005789endoplasmic reticulum membrane TAS--

    Find genes that share ontologies with DHCR24           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 GeneDecks, 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).
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    SuperPaths for DHCR24 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 biosynthesis II (via 24,25-dihydrolanosterol)0.59
    cholesterol biosynthesis III (via desmosterol)0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Tryptophan metabolism
    Tryptophan metabolism0.46
    4Glucose / Energy Metabolism
    Glucose / Energy Metabolism


    Find genes that share SuperPaths with DHCR24           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for DHCR24
        Glucose / Energy Metabolism

    5 BioSystems Pathways for DHCR24
        cholesterol biosynthesis I
    superpathway of cholesterol biosynthesis
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
    cholesterol biosynthesis III (via desmosterol)
    Tryptophan metabolism


    1 Reactome Pathway for DHCR24
        Cholesterol biosynthesis


    2 Kegg Pathways  (Kegg details for DHCR24):
        Steroid biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: DHC24_HUMAN, Q15392
    Pathway: Steroid biosynthesis; cholesterol biosynthesis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DHCR24: 

              Oxidative Stress in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Apoptosis 384HT in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DHCR24

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

    Selected Interacting proteins for DHCR24 (Q153923 ENSP000003603164) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046373, ENSP000002693054I2D: score=3 STRING: ENSP00000269305
    MDM2Q009873, ENSP000004172814I2D: score=1 STRING: ENSP00000417281
    CELENSP000003611514STRING: ENSP00000361151
    CYP51A1ENSP000000031004STRING: ENSP00000003100
    DHCR7ENSP000003477174STRING: ENSP00000347717
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006695cholesterol biosynthetic process TAS--
    GO:0006915apoptotic process NAS11007892
    GO:0006979response to oxidative stress IEP11007892
    GO:0007050cell cycle arrest NAS15577914
    GO:0007265Ras protein signal transduction IEA--

    Find genes that share ontologies with DHCR24           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DHCR24 (DHC24)

    Selected HMDB Compounds for DHCR24 (see all 20)    About this table
    CompoundSynonyms CAS #PubMed Ids
    24,25-Dihydrolanosterol 79-62-9--
    24-Methylenecholesterol(3b)-Ergosta-5,24(28)-dien-3-ol (see all 8)474-63-5--
    4,4-Dimethyl-5a-cholesta-8,24-dien-3-b-ol14-demethyllanosterol (see all 11)7448-02-4--
    4,4-Dimethyl-5a-cholesta-8-en-3b-ol4,4-Dimethyl-5alpha-cholesta-8-en-3beta-ol;4,4-dimethylcholesta-8(9)-en-3beta-ol (see all 6)----
    5a-Cholest-8-en-3b-ol5alpha-Cholest-8(9)-en-3beta-ol (see all 7)566-97-2--
    5a-Cholesta-7,24-dien-3b-ol5alpha-Cholesta-7,24-dien-3beta-ol (see all 2)651-54-7--
    7-Dehydrocholesterol(-)-7-dehydrocholesterol (see all 26)434-16-2--
    7-DehydrodesmosterolCholesta-5,7,24-trien-3beta-ol (see all 2)1715-86-2--
    AvenasterolIsofucosterol (see all 10)481-14-1--
    Beta-Sitosterol(-)-b-Sitosterol (see all 34)83-46-5--

    6 Novoseek inferred chemical compound relationships for DHCR24 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3beta-hydroxysterol 96.1 8 15688385 (1), 11519011 (1), 15001630 (1), 18768664 (1) (see all 5)
    desmosterol 95.6 26 12457401 (3), 19520779 (2), 17094431 (1), 16762343 (1) (see all 12)
    cholesterol 60.8 42 17984220 (3), 15688385 (2), 18394665 (2), 17510943 (2) (see all 19)
    sterol 58.3 5 17984220 (1), 11519011 (1), 12457401 (1), 19283968 (1)
    steroid 34.8 1 20166102 (1)
    estrogen 7.91 8 15585566 (3), 18499757 (3), 15954227 (2)



    Find genes that share compounds with DHCR24           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, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DHCR24 gene: 
    NM_014762.3  

    Unigene Cluster for DHCR24:

    24-dehydrocholesterol reductase
    Hs.498727  [show with all ESTs]
    Unigene Representative Sequence: NM_014762
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371269(uc010ooi.1 uc010ooj.1 uc010ook.1 uc001cyc.1)
    ENST00000436604 ENST00000535035 ENST00000537443
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DHCR24 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DHCR24 (see all 34):
    hsa-miR-345 hsa-miR-642a hsa-miR-631 hsa-miR-1914* hsa-miR-486-3p hsa-miR-3921 hsa-miR-124 hsa-miR-532-5p
    SwitchGear 3'UTR luciferase reporter plasmidDHCR24 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for DHCR24
    Predesigned siRNA for gene silencing in human, mouse, rat DHCR24
    Clone
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    GenScript: all cDNA clones in your preferred vector: DHCR24 (NM_014762)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DHCR24
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DHCR24
    Primer
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    OriGene qPCR primer pairs and template standards for DHCR24
    OriGene qSTAR qPCR primer pairs in human, mouse for DHCR24
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DHCR24
      QuantiTect SYBR Green Assays in human, mouse, rat DHCR24
      QuantiFast Probe-based Assays in human, mouse, rat DHCR24

    Additional mRNA sequence: 

    AB073391.1 AF261758.1 AK298414.1 AK302774.1 AK304302.1 AK304421.1 AK304437.1 AK316419.1 
    AK316427.1 BC004375.1 BC011669.2 D13643.3 

    Selected DOTS entries (see all 45):

    DT.95228106  DT.100885748  DT.100885752  DT.449037  DT.91882207  DT.100885762  DT.95344396  DT.121395022 
    DT.91773850  DT.95272537  DT.100885753  DT.100885751  DT.121395011  DT.121395026  DT.121394969  DT.100885756 
    DT.121394983  DT.121394986  DT.121395028  DT.91773843  DT.99976414  DT.100885733  DT.121394960  DT.121395060 

    Selected AceView cDNA sequences (see all 894):

    BC011669 BM802636 T06133 CF145147 BQ932425 AU132109 BQ647401 BE740918 
    BM753988 BM470423 BU859061 BG741729 BE745944 BF981105 BM742163 AL046697 
    BQ649877 BF036279 BQ928792 BF970268 BQ720487 AU125049 BE747340 BM697138 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for DHCR24    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                                -     -                                               -                     
    SP2:                                                                                                            
    SP3:                                      -                                                                     
    SP4:                                -                                                                           
    SP5:                    -           -     -                                                                     


    ECgene alternative splicing isoforms for DHCR24

    (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™, 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

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    DHCR24 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCCCGTGGC
    DHCR24 Expression
    About this image


    DHCR24 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Midbrain tegmentum
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             Liver Lobule
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Somite (Muscoskeletal System)
             Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
    DHCR24 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DHCR24 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.498727

    UniProtKB/Swiss-Prot: DHC24_HUMAN, Q15392
    Tissue specificity: Highly expressed in brain and adrenal gland with moderate expression in liver, lung, spleen,
    prostate and spinal cord. Low expression in heart, uterus and prostate. Undetectable in blood cells. In the
    brain, strongly expressed in cortical regions, substantia nigra, caudate nucleus, hippocampus, medulla oblongata
    and pons. In brains affected by Alzheimer disease, expression in the inferior temporal lobe is substantially
    lower than in the frontal cortex

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DHCR24: 
              Oxidative Stress in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
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              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    (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

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DHCR24 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dhcr241 , 5 24-dehydrocholesterol reductase1, 5 91.34(n)1
    96.9(a)1
      4 (49.67 cM)5
    747541  NM_053272.21  NP_444502.21 
     1065610385 
    chicken
    (Gallus gallus)
    Aves DHCR241 24-dehydrocholesterol reductase 76.16(n)
    78.29(a)
      424661  NM_001031288.1  NP_001026459.1 
    lizard
    (Anolis carolinensis)
    Reptilia DHCR246
    24-dehydrocholesterol reductase
    77(a)
    1 ↔ 1
    4(104392352-104405193)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX747895.12   -- 79.31(n)    BX747895.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dhcr241 24-dehydrocholesterol reductase 73.64(n)
    79.46(a)
      494102  NM_001008645.1  NP_001008645.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F52H2.61 , 3 F52H2.61 49(a)
    (best of 2)3
    53.27(n)1
    50.51(a)1
      X(2595110-2596223)3
    1861341  NM_076062.31  NP_508463.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DWF11 DWF1 52.84(n)
    43.36(a)
      821519  NM_180285.3  NP_850616.1 
    rice
    (Oryza sativa)
    Liliopsida Os.72162 Oryza sativa (japonica cultivar-group) putative Cell more 73.76(n)    NM_196346.1 


    ENSEMBL Gene Tree for DHCR24 (if available)
    TreeFam Gene Tree for DHCR24 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DHCR24 gene
    1 SIMAP similar gene for DHCR24 using alignment to 4 protein entries:     DHC24_HUMAN (see all proteins):
    Nbla03646

    Find genes that share paralogs with DHCR24           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for DHCR24
    PGOHUM00000232835


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), 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)
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    Selected SNPs for DHCR24 (see all 971)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0127334
    Desmosterolosis (DESMOS)4--see VAR_0127332 N T mis40--------
    VAR_0127344
    Desmosterolosis (DESMOS)4--see VAR_0127342 K N mis40--------
    rs289390931,2,4
    Desmosterolosis (DESMOS)4--see VAR_0127322 mis40--------
    rs57742001,2
    C--53442674(+) AAAAA-/AA/AAA/AAAAA/
    AAAAAAAAAAAAAAA
    GGCAG
    2 -- int1 cds11NA 2
    rs66958471,2
    C,F,A--53448246(+) TAACAG/ATGATG 1 -- int15Minor allele frequency- A:0.49WA NA EA 246
    rs66874891,2
    C,F,A--53448250(+) AGTGAT/CGGTTA 1 -- int15Minor allele frequency- C:0.48WA NA EA 246
    rs1422413491,2
    C--53448284(+) TAAAA-/GATGGA 1 -- int10--------
    rs11808601,2
    C,F--53448290(+) ATGGAC/TATTAA 1 -- int13Minor allele frequency- T:0.50WA NA 6
    rs1129774801,2
    C--53449162(+) CATAT-/AC    
       
    /ACAC
    ACACA
    1 -- int11CSA 2
    rs1488704171,2
    C--53460337(+) AATAT-/AAAC  
            
    AAACA
    1 -- int10--------

    HapMap Linkage Disequilibrium report for DHCR24 (55315300 - 55352921 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for DHCR24:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2748375CNV Deletion23290073
    esv1764339CNV Deletion17803354
    esv2078805CNV Deletion18987734
    esv2676460CNV Deletion23128226
    esv995636CNV Deletion20482838
    esv2748386CNV Deletion23290073
    nsv461561CNV Gain19166990
    nsv817614CNV Gain22305530
    dgv229n71CNV Gain21882294
    nsv829915CNV Gain17160897

    Human Gene Mutation Database (HGMD): DHCR24
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DHCR24
    DNA2.0 Custom Variant and Variant Library Synthesis for DHCR24

    (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.)
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    OMIM gene information: 606418   
    OMIM disorders: 602398  
    UniProtKB/Swiss-Prot: DHC24_HUMAN, Q15392
  • Desmosterolosis (DESMOS) [MIM:602398]: Rare autosomal recessive disorder characterized by multiple
    congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured
    cells. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for DHCR24:    
    About MalaCards
    desmosterolosis    spasticity    alzheimer's disease

    1 disease from the University of Copenhagen DISEASES database for DHCR24:
    Alzheimer's disease

    Find genes that share disorders with DHCR24           About GenesLikeMe

    4 Novoseek inferred disease relationships for DHCR24 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    desmosterolosis 93.7 8 11519011 (2), 16410790 (2), 12457401 (1), 19597241 (1)
    alzheimers disease 69 19 19597241 (2), 17984220 (1), 19815556 (1), 16762343 (1) (see all 13)
    adenoma 10.7 1 16091489 (1)
    cancer 0 1 16455181 (1)

    Genetic Association Database (GAD): DHCR24
    Human Genome Epidemiology (HuGE) Navigator: DHCR24 (5 documents)

    Export disorders for DHCR24 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)
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    PubMed articles for DHCR24 gene, integrated from 10 sources (see all 74):
    (articles sorted by number of sources associating them with DHCR24)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the 3beta-hydroxysterol delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. (PubMed id 11519011)1, 2, 3, 9 Waterham H.R.... Wanders R.J.A. (Am. J. Hum. Genet. 2001)
    2. The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress. (PubMed id 11007892)1, 2, 9 Greeve I.... Nitsch R.M. (J. Neurosci. 2000)
    3. The membrane topological analysis of 3 {beta}-hydroxysteroid-delta24 reductase (DHCR24) on endoplasmic reticulum. (PubMed id 22010141)1, 2 Lu X.... Gao B. (J. Mol. Endocrinol. 2012)
    4. 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)
    5. Genetic variation and antioxidant response gene expression in the bronchial airway epithelium of smokers at risk for lung cancer. (PubMed id 20689807)1, 4 Wang X....Bell D.A. (PLoS ONE 2010)
    6. Determination of genetic predisposition to patent ductus arteriosus in preterm infants. (PubMed id 19336370)1, 4 Dagle J.M....Murray J.C. (Pediatrics 2009)
    7. 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)
    8. 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)
    9. 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)
    10. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PubMed id 7584026)1, 2 Nomura N.... Tabata S. (DNA Res. 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1718 HGNC: 2859 AceView: DHCR24 Ensembl:ENSG00000116133 euGenes: HUgn1718
    ECgene: DHCR24 Kegg: 1718 H-InvDB: DHCR24

    (According to HUGE)
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    HUGE: KIAA0018

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for DHCR24 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DHCR24 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DHCR24[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DHCR24 gene:
    Search GeneIP for patents involving DHCR24

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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