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MGP005547

UniProt Annotations

Entry Information
Gene Namecytochrome P450, family 26, subfamily B, polypeptide 1
Protein EntryCP26B_HUMAN
UniProt IDQ9NR63
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NR63-1; Sequence=Displayed; Name=2; IsoId=Q9NR63-2; Sequence=VSP_042968; Name=3; IsoId=Q9NR63-3; Sequence=VSP_042967; Note=No experimental confirmation available.;
CofactorName=heme; Xref=ChEBI:CHEBI:30413; Evidence={ECO:0000250};
DiseaseRadiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM:614416]: A disease characterized by craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects. {ECO:0000269|PubMed:22019272}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInvolved in the metabolism of retinoic acid (RA), rendering this classical morphogen inactive through oxidation. Involved in the specific inactivation of all-trans-retinoic acid (all-trans-RA), with a preference for the following substrates: all-trans-RA > 9-cis-RA > 13-cis-RA. Generates several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA, and 18-OH- RA. Esential for postnatal survival. Plays a central role in germ cell development: acts by degrading RA in the developing testis, preventing STRA8 expression, thereby leading to delay of meiosis. Required for the maintenance of the undifferentiated state of male germ cells during embryonic development in Sertoli cells, inducing arrest in G0 phase of the cell cycle and preventing meiotic entry. Plays a role in skeletal development, both at the level of patterning and in the ossification of bone and the establishment of some synovial joints. {ECO:0000269|PubMed:10823918, ECO:0000269|PubMed:22019272}.
InductionBy retinoic acid.
Sequence CautionSequence=BAH12154.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the cytochrome P450 family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Microsome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
Tissue SpecificityHighly expressed in brain, particularly in the cerebellum and pons. {ECO:0000269|PubMed:10823918}.
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/cyp26b1/";
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