CYP21A2

CYP21A2 (Cytochrome P450 Family 21 Subfamily A Member 2) is a Protein Coding gene. Diseases associated with CYP21A2 include Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency and Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency, Simple Virilizing Form. Among its related pathways are superpathway of steroid hormone biosynthesis and Aldosterone synthesis and secretion. 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 CYP17A1.

Cytochrome P450 Family 21 Subfamily A Member 2

A cytochrome P450 monooxygenase that plays a major role in adrenal steroidogenesis. Catalyzes the hydroxylation at C-21 of progesterone and 17alpha-hydroxyprogesterone to respectively form 11-deoxycorticosterone and 11-deoxycortisol, intermediate metabolites in the biosynthetic pathway of mineralocorticoids and glucocorticoids (PubMed:25855791, PubMed:10602386, PubMed:16984992, PubMed:22014889, PubMed:27721825).

Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:25855791).

Glucocorticoid biosynthetic process Source: GO_Central
Mineralocorticoid biosynthetic process Source: Reactome
Steroid biosynthetic process Source: UniProtKB
Steroid metabolic process Source: UniProtKB
Sterol metabolic process Source: Reactome

Endoplasmic reticulum membrane; Microsome membrane

Adrenal hyperplasia 3 (AH3):
A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic).