CYP21A2

Steroid 21-hydroxylase ;
21-OHase ;
Cytochrome P-450c21 ;
Cytochrome P450 21 ;
Cytochrome P450 XXI ;
Cytochrome P450-C21 ;
Cytochrome P450-C21B ;

catalytic activity:A steroid + AH(2) + O(2) = a 21-hydroxysteroid + A + H(2)O.,cofactor:Heme group.,disease:Defects in CYP21A2 are the cause of adrenal hyperplasia type 3 (AH3) [MIM:201910]. AH3 is 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).,domain:The leucine-rich hydrophobic amino acid N-terminal region probably helps to anchor the protein to the microsomal membrane.,function:Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids.,miscellaneous:The human genome contains 2 genes, C4A and C4B, for C4 complement component separated by approximately 10 kb. 3'to each of the C4 genes there is a steroid 21-hydroxylase gene. The gene 3'to C4A is a pseudogene.,online information:CYP21A2 alleles,online information:The Singapore human mutation and polymorphism database,similarity:Belongs to the cytochrome P450 family.,

steroid biosynthetic process, steroid metabolic process, lipid biosynthetic process, oxidation reduction,

Endoplasmic reticulum membrane; Peripheral membrane protein . Microsome membrane ; Peripheral membrane protein .