DISEASES

Disease-gene associations mined from literature

Literature associating CYP26B1 and hypervitaminosis A

CYP26B1 [ENSP00000001146]

Cytochrome P450, family 26, subfamily B, polypeptide 1; 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. Essential 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 family 26

Synonyms:  CYP26B1,  CYP26B1p,  hCYP26B1,  CYP26B1-001,  CYP26B1-002 ...

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