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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CYP26C1 Gene

protein-coding   GIFtS: 58
GCID: GC10P094811

Cytochrome P450, Family 26, Subfamily C, Polypeptide 1

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(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

Aliases
Cytochrome P450, Family 26, Subfamily C, Polypeptide 11 2
FFDD42
Cytochrome P450 26C12
EC 1.14.-.-3

External Ids:    HGNC: 205771   Entrez Gene: 3406652   Ensembl: ENSG000001875537   OMIM: 6084285   UniProtKB: Q6V0L03   

Export aliases for CYP26C1 gene to outside databases

Previous GC identifers: GC10P094952 GC10P094485 GC10P088448


(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 CYP26C1 Gene:
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are
monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids
and other lipids. This enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus
contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related
gene on chromosome 10q23.33. (provided by RefSeq, Jul 2008)

GeneCards Summary for CYP26C1 Gene: 
CYP26C1 (cytochrome P450, family 26, subfamily C, polypeptide 1) is a protein-coding gene. Diseases associated with CYP26C1 include diffuse idiopathic skeletal hyperostosis, and hyperostosis, and among its related super-pathways are Cytochrome P450 - arranged by substrate type and Phase II conjugation. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP51A1.

UniProtKB/Swiss-Prot: CP26C_HUMAN, Q6V0L0
Function: Plays a role in retinoic acid metabolism. Acts on retinoids, including all-trans-retinoic acid (RA) and
its stereoisomer 9-cis-RA (preferred substrate)

summary for CYP26C1 Gene:
Cytochrome P450 (CYP450) enzymes are a diverse group of catalysts that contains 57 members in humans. CYPs
are usually membrane-bound and are localized to the inner mitochondrial or endoplasmic reticular membrane.
CYPs have oxygenase activity and commonly catalyze redox reactions, involving the oxidation of the substrate
and reduction of water. This group of enzymes contain a heme ion within the active site, which is essential
for catalytic activity. CYPs have been found in all organisms tested and are ubiquitously expressed. They
are found at high levels in the liver, where they have an important role in metabolism of drugs and
endogenous toxic compounds (for example bilirubin). Most CYPs can metabolize numerous substrates and this
accounts for their major role in drug interactions. CYPs also have functions in steroid hormone synthesis,
cholesterol synthesis and vitamin D metabolism.

Gene Wiki entry for CYP26C1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CYP26C1 gene promoter:
         NRSF form 1   NRSF form 2   GATA-2   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCYP26C1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CYP26C1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP26C1


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

Entrez Gene cytogenetic band: 10q23.33   Ensembl cytogenetic band:  10q23.33   HGNC cytogenetic band: 10q23.33

CYP26C1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP26C1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P094811:  view genomic region     (about GC identifiers)

Start:
94,821,021 bp from pter      End:
94,828,454 bp from pter
Size:
7,434 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CP26C_HUMAN, Q6V0L0 (See protein sequence)
Recommended Name: Cytochrome P450 26C1  
Size: 522 amino acids; 57111 Da
Cofactor: Heme group (By similarity)
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Secondary accessions: Q5VXH6

Explore the universe of human proteins at neXtProt for CYP26C1: NX_Q6V0L0

Explore proteomics data for CYP26C1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6V0L0

  • CYP26C1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CYP26C1 Protein Expression
    REFSEQ proteins: NP_899230.2  
    ENSEMBL proteins: 
     ENSP00000285949  
    Reactome Protein details: Q6V0L0
    Human Recombinant Protein Products for CYP26C1: 
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    Novus Biologicals CYP26C1 Protein
    Novus Biologicals CYP26C1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CYP26C1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--

    CYP26C1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for CYP26C1 
    Cloud-Clone Corp. CLIAs for CYP26C1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP26C1 
    CYP24, CYP26 and CYP27 families

    3 InterPro protein domains:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002403 Cyt_P450_E_grp-IV

    Graphical View of Domain Structure for InterPro Entry Q6V0L0

    ProtoNet protein and cluster: Q6V0L0

    1 Blocks protein domain: IPB002403 E-class P450 group IV signature

    UniProtKB/Swiss-Prot: CP26C_HUMAN, Q6V0L0
    Similarity: Belongs to the cytochrome P450 family


    CYP26C1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP26C_HUMAN, Q6V0L0
    Function: Plays a role in retinoic acid metabolism. Acts on retinoids, including all-trans-retinoic acid (RA) and
    its stereoisomer 9-cis-RA (preferred substrate)
    Induction: By retinoic acid

         Enzyme Number (IUBMB): EC 1.14.-.-1

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001972retinoic acid binding IDA14532297
    GO:0005506iron ion binding IEA--
    GO:0008401retinoic acid 4-hydroxylase activity IDA14532297
    GO:0009055electron carrier activity IEA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
         
    CYP26C1 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for CYP26C1:
     Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica  
     Decreased Salmonella-containin 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cyp26c1):
     cellular  craniofacial  embryogenesis  limbs/digits/tail  mortality/aging 
     nervous system  normal 

    CYP26C1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cyp26c1tm1.1Keya for CYP26C1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CYP26C1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CYP26C1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CYP26C1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP26C1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CYP26C1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    Phase 1 - Functionalization of compounds0.74
    cytochrome P4500.75
    2Biological oxidations
    Biological oxidations0.55
    metapathway biotransformation0.41
    3Metabolism
    Metabolism0.40
    4Drug metabolism - cytochrome P450
    Retinol metabolism0.39
    5Vitamin D2 (ergocalciferol) metabolism
    Vitamins0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for CYP26C1
        cytochrome P450
    metapathway biotransformation

    5        Reactome Pathways for CYP26C1
        Cytochrome P450 - arranged by substrate type
    Metabolism
    Biological oxidations
    Phase 1 - Functionalization of compounds
    Vitamins


    1         Kegg Pathway  (Kegg details for CYP26C1):
        Retinol metabolism


    CYP26C1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CYP26C1

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

    5/35 Interacting proteins for CYP26C1 (ENSP000002859494) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALDH1A1ENSP000002977854STRING: ENSP00000297785
    ALDH1A2ENSP000002497504STRING: ENSP00000249750
    CYP1A1ENSP000003690504STRING: ENSP00000369050
    CYP1A2ENSP000003420074STRING: ENSP00000342007
    CYP2A13ENSP000003326794STRING: ENSP00000332679
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0007417central nervous system development ISS--
    GO:0009952anterior/posterior pattern specification ISS--
    GO:0014032neural crest cell development ISS--

    CYP26C1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for CYP26C1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PF 4981517Selective CYP3A4 inhibitor[1390637-82-7]
    MethoxyresorufinFluorometric CYP450 substrate[5725-89-3]
    Letrozole Potent, reversible non-steroidal aromatase inhibitor [112809-51-5]
    ExemestaneSteroidal aromatase (CYP19) inhibitor[107868-30-4]
    PentoxyresorufinFluorometric cytochrome P450 substrate[87687-03-4]

    1 HMDB Compound for CYP26C1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--

    Search CenterWatch for drugs/clinical trials and news about CYP26C1 / CP26C

    (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,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CYP26C1 gene: 
    NM_183374.2  

    Unigene Cluster for CYP26C1:

    Cytochrome P450, family 26, subfamily C, polypeptide 1
    Hs.369993  [show with all ESTs]
    Unigene Representative Sequence: AK131099
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000285949(uc010qns.2 uc009xud.3)

    miRNA
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    Additional mRNA sequence: 

    AK127234.1 AK131099.1 AY356349.1 

    3 DOTS entries:

    DT.101980241  DT.101980240  DT.65286830 

    5 AceView cDNA sequences:

    AK131099 AK127234 AY356349 NM_183374 BI043270 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CYP26C1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c
    SP1:                                      -                                 
    SP2:                                -           -                           
    SP3:                                            -     -                     


    ECgene alternative splicing isoforms for CYP26C1

    (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

    CYP26C1 expression in normal human tissues (normalized intensities)      CYP26C1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CYP26C1 Expression
    About this image


    CYP26C1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Head Mesenchyme (Muscoskeletal System)
             Head Mesenchyme

    See CYP26C1 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.369993

    UniProtKB/Swiss-Prot: CP26C_HUMAN, Q6V0L0
    Tissue specificity: Detected in most tissues at very low level

        SABiosciences Expression via Pathway-Focused PCR Array including CYP26C1: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP26C1

    (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 CYP26C1 gene from 8/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp26c11 , 5 cytochrome P450, family 26, subfamily c, polypeptide more1, 5 84.56(n)1
    87.98(a)1
      19 (32.36 cM)5
    5467261  NM_001105201.11  NP_001098671.11 
     376856805 
    chicken
    (Gallus gallus)
    Aves CYP26C11 cytochrome P450, family 26, subfamily C, polypeptide more 73.99(n)
    74.79(a)
      423806  XM_421678.3  XP_421678.3 
    lizard
    (Anolis carolinensis)
    Reptilia CYP26C16
    cytochrome P450, family 26, subfamily C, polypepti...
    58(a)
    1 ↔ 1
    GL343219.1(2259506-2279483)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.19462 Xenopus laevis transcribed sequence with weak similarity more 75.4(n)    BJ065612.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cyp26c11 cytochrome P450, family 26, subfamily C, polypeptide more 61.36(n)
    58.45(a)
      554036  NM_001029951.2  NP_001025122.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cyp313a56
    Cyp313a46
    (see all 7)
    Cyp313a4
    (see all 7)
    20(a)
    19(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    3R(8058575-8060406)
    3R(8505001-8507097)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG116
    Lanosterol 14-alpha-demethylase; catalyzes the C-1...
    18(a)
    1 → many
    VIII(120091-121683)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CYP7181 cytochrome P450, family 718 40.91(n)
    32.84(a)
      818885  NM_129846.2  NP_181813.1 


    ENSEMBL Gene Tree for CYP26C1 (if available)
    TreeFam Gene Tree for CYP26C1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CYP26C1 gene
    CYP51A12  CYP26A12  CYP26B12  CYP46A12  
    4 SIMAP similar genes for CYP26C1 using alignment to 1 protein entry:     CP26C_HUMAN:
    FLJ00329    CYP26B1    DKFZp686G0638    CYP26A1

    CYP26C1 for paralogs           About GeneDecksing



    (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) 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

    10/218 SNPs in CYP26C1 are shown (see all 218)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs786311291,2
    C--94821384(+) GATACC/TCCGTT 1 -- int10--------
    rs1429157011,2
    C--94821384(+) GATAC-/TCCGT 
            
    TCCCT
    1 -- int10--------
    rs717364461,2
    C--94821386(+) TACTC-/CGTT  
            
    CCCTC
    1 -- int10--------
    rs82111,2
    C,F,O,A,H--95182882(+) GTTTCC/TGTGGT 1 -- us2k131Minor allele frequency- A:0.01MN NA EA NS WA CSA 3088
    rs789379971,2
    C--95182915(+) TCTTTA/CTTCTC 1 -- us2k10--------
    rs1496615671,2
    --95183107(+) GCTTAC/GTGATT 1 -- us2k10--------
    rs2002042431,2
    --95183188(+) TATAT-/ATAC  
            
    ATACA
    1 -- us2k10--------
    rs96633171,2
    C--95183194(+) atacaC/Tacaca 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs671482241,2
    C--95183195(+) ACATA-/ACAC  
            
    CACAC
    1 -- us2k10--------
    rs1867446291,2
    --95183198(+) ATACAC/TACACA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CYP26C1 (94821021 - 94828454 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CYP26C1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv895899CNV Loss21882294


    Human Gene Mutation Database (HGMD): CYP26C1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CYP26C1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP26C1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608428    OMIM disorders: --

    UniProtKB/Swiss-Prot: CP26C_HUMAN, Q6V0L0
  • Focal facial dermal dysplasia 4 (FFDD4) [MIM:614974]: A form of focal facial dermal dysplasia, a group of
    developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis
    congenita. Skin defects occur at the sites of facial fusion during embryogenesis, with temporal lesions situated
    at the junction between the frontonasal and maxillary facial prominences, and preauricular lesions at the meeting
    point of the maxillary and mandibular prominences. The ectodermal lesions show consistent histologic
    abnormalities: atrophy and flattening of the epidermis, replacement of the dermis by loose connective tissue,
    reduced levels of fragmented elastic tissue and absence of the subcutaneous tissues and adnexal structures. FFDD4
    is characterized by isolated, preauricular skin lesions. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 6 diseases for CYP26C1:    About MalaCards
    diffuse idiopathic skeletal hyperostosis    hyperostosis    spina bifida    cytochrome p450
    tuberculosis    alzheimer's disease

    1 disease from the University of Copenhagen DISEASES database for CYP26C1:
    Diffuse idiopathic skeletal hyperostosis

    CYP26C1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): CYP26C1
    Human Genome Epidemiology (HuGE) Navigator: CYP26C1 (3 documents)

    Export disorders for CYP26C1 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 CYP26C1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CYP26C1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel human cytochrome P450, CYP26C1, involved in metabolism of 9- cis and all-trans isomers of retinoic acid. (PubMed id 14532297)1, 2, 9 Taimi M.... Petkovich M. (2004)
    2. Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. (PubMed id 23161670)1, 2 Slavotinek A.M.... Desnick R.J. (2013)
    3. Positive association between ALDH1A2 and schizophreni a in the Chinese population. (PubMed id 19703508)1, 4 Wan C....He L. (2009)
    4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (2006)
    5. Evidence for a functional genetic polymorphism of the human retinoic acid-metabolizing enzyme CYP26A1, an enzyme that may be involved in spina bifida. (PubMed id 16933217)1, 4 Rat E....Broly F. (2006)
    6. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Nonsyndromic bilateral and unilateral optic nerve apl asia: first familial occurrence and potential implication of CYP26A1 and CYP26C 1 genes. (PubMed id 21850183)1 Meire F....De Baere E. (2011)
    9. Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants. (PubMed id 15128046)1 Nelson D.R....Nebert D.W. (2004)
    10. Topical treatment with CYP26 inhibitor talarozole (R115866) dose dependently alters the expression of retinoid-regulated genes in normal human epidermis. (PubMed id 19016711)9 Pavez LoriA" E....Vahlquist A. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 340665 HGNC: 20577 AceView: CYP26C1 Ensembl:ENSG00000187553 euGenes: HUgn340665
    ECgene: CYP26C1 Kegg: 340665 H-InvDB: CYP26C1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CYP26C1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CYP26C1 gene:
    Search GeneIP for patents involving CYP26C1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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