Q16874
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UniProt Related Accession #
NCBI Official Full Name
cytochrome P450, family 21, subfamily A, polypeptide 2
NCBI Official Synonym Full Names
cytochrome P450, family 21, subfamily A, polypeptide 2
NCBI Official Synonym Symbols
CAH1; CPS1; CA21H; CYP21; CYP21B; P450c21B; MGC150536; MGC150537 [Similar Products]
NCBI Protein Information
steroid 21-hydroxylase; 21-OHase; OTTHUMP00000029083; OTTHUMP00000174778; cytochrome P450 21; cytochrome P450 XXI; cytochrome P450-C21B; steroid 21-monooxygenase; cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2
UniProt Protein Name
Cytochrome P450 21-hydroxylase
UniProt Synonym Gene Names
UniProt Entry Name
Q16874_HUMAN
NCBI Summary for CYP21A2
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]
UniProt Comments for CYP21A2
CYP21A2: Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids. Defects in CYP21A2 are the cause of adrenal hyperplasia type 3 (AH3). 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). Belongs to the cytochrome P450 family.
Protein type: Lipid Metabolism - C21-steroid hormone; EC 1.14.99.10; Oxidoreductase
Chromosomal Location of Human Ortholog: 6p21.3
Cellular Component: endoplasmic reticulum membrane
Molecular Function: steroid 21-monooxygenase activity; iron ion binding; heme binding; steroid hydroxylase activity; steroid binding
Biological Process: steroid metabolic process; xenobiotic metabolic process; mineralocorticoid biosynthetic process; glucocorticoid biosynthetic process; sterol metabolic process
Disease: Adrenal Hyperplasia, Congenital, Due To 21-hydroxylase Deficiency
Research Articles on CYP21A2
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Pathways associated with anti-CYP21A2 antibody
Diseases associated with anti-CYP21A2 antibody
Organs/Tissues associated with anti-CYP21A2 antibody
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