DISEASES

Disease-gene associations mined from literature

Literature associating CYP11B1 and pseudohermaphroditism

CYP11B1 [ENSP00000292427]

Cytochrome P450 11B1, mitochondrial; A cytochrome P450 monooxygenase involved in the biosynthesis of adrenal corticoids . Catalyzes the hydroxylation of carbon hydrogen bond at 11-beta position of 11-deoxycortisol and 11- deoxycorticosterone/21-hydroxyprogesterone yielding cortisol or corticosterone, respectively . Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron- sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin) .

Synonyms:  CYP11B1,  CYP11B1p,  hCYP11B1,  H0YBR4,  P15538 ...

Linkouts:  STRING  Pharos  UniProt  OMIM