Aliases for CYP26B1 Gene
External Ids for CYP26B1 Gene
Previous GeneCards Identifiers for CYP26B1 Gene
This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
GeneCards Summary for CYP26B1 Gene
CYP26B1 (Cytochrome P450, Family 26, Subfamily B, Polypeptide 1) is a Protein Coding gene. Diseases associated with CYP26B1 include craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies and lethal occipital encephalocele-skeletal dysplasia syndrome. Among its related pathways are Metabolism and Vitamin A and carotenoid metabolism. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP26C1.
UniProtKB/Swiss-Prot for CYP26B1 Gene
Involved 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.
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.