DISEASES

Disease-gene associations mined from literature

Literature associating CYP11A1 and congenital adrenal insufficiency

CYP11A1 [ENSP00000268053]

Cholesterol side-chain cleavage enzyme, mitochondrial; A cytochrome P450 monooxygenase that catalyzes the side-chain hydroxylation and cleavage of cholesterol to pregnenolone, the precursor of most steroid hormones . Catalyzes three sequential oxidation reactions of cholesterol, namely the hydroxylation at C22 followed with the hydroxylation at C20 to yield 20R,22R- hydroxycholesterol that is further cleaved between C20 and C22 to yield the C21-steroid pregnenolone and 4-methylpentanal . 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:  CYP11A1,  CYP11A1p,  hCYP11A1,  A0A0S2Z3R3,  C9JPU9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM