CYP11A1

CYP11A1 (Cytochrome P450 Family 11 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP11A1 include Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete and Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11a1 Deficiency. Among its related pathways are Aldosterone synthesis and secretion and Metabolism. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP11B2.

Cytochrome P450 Family 11 Subfamily A Member 1

A cytochrome P450 monooxygenase that catalyzes the side-chain hydroxylation and cleavage of cholesterol to pregnenolone, the precursor of most steroid hormones (PubMed:21636783).

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 (PubMed:21636783).

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) (PubMed:21636783).

C21-steroid hormone biosynthetic process Source: UniProtKB
Cellular response to peptide hormone stimulus Source: GO_Central
Cholesterol metabolic process Source: UniProtKB
Cortisol metabolic process Source: GO_Central
Glucocorticoid biosynthetic process Source: GO_Central
Sterol metabolic process Source: Reactome
Vitamin D metabolic process Source: UniProtKB

Mitochondrion inner membrane. Localizes to the matrix side of the mitochondrion inner membrane.

Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR):
A rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure. Patients with congenital adrenal insufficiency do not manifest the massive adrenal enlargement typical of congenital lipoid adrenal hyperplasia.