CYP26B1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and the synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene is involved in the specific inactivation of all-trans-retinoic acid to hydroxylated forms, such as 4-oxo-, 4-OH-, and 18-OH-all-trans-retinoic acid. [provided by RefSeq]

cytochrome P450, family 26, subfamily B, polypeptide 1

Involved in the metabolism of retinoic acid (RA), rendering this classical morphogen inactive through oxidation (PubMed:10823918, PubMed:22020119).

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 (PubMed:10823918, PubMed:22020119).

Generates several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA, and 18-OH-RA (PubMed:10823918).

Catalyzes the hydroxylation of carbon hydrogen bonds of atRA primarily at C-4 (PubMed:10823918, PubMed:22020119).

Essential for postnatal survival (By similarity).

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 (By similarity).

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 (By similarity).

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 (PubMed:22019272).

Has also a significant activity in oxidation of tazarotenic acid and may therefore metabolize that xenobiotic in vivo.

Bone morphogenesis Source: UniProtKB
Cell fate determination Source: BHF-UCL
Cellular response to retinoic acid Source: Ensembl
Cornification Source: Ensembl
Embryonic limb morphogenesis Source: BHF-UCL
Establishment of skin barrier Source: Ensembl
Establishment of T cell polarity Source: Ensembl
Inflammatory response Source: Ensembl
Kidney development Source: Ensembl
Male meiotic nuclear division Source: BHF-UCL
Negative regulation of retinoic acid receptor signaling pathway Source: BHF-UCL
Positive regulation of gene expression Source: Ensembl
Positive regulation of tongue muscle cell differentiation Source: Ensembl
Proximal/distal pattern formation Source: BHF-UCL
Regulation of T cell differentiation Source: Ensembl
Response to vitamin A Source: Ensembl
Retinoic acid catabolic process Source: BHF-UCL
Retinoic acid metabolic process Source: UniProtKB
Retinoic acid receptor signaling pathway Source: Ensembl
Spermatogenesis Source: BHF-UCL
Sterol metabolic process Source: GO_Central
Tongue morphogenesis Source: Ensembl
Vitamin metabolic process Source: Reactome
Xenobiotic metabolic process Source: UniProtKB

Endoplasmic reticulum membrane; Microsome membrane

Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA):
A disease characterized by craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects.