Protein: CP21A_HUMAN
Steroid 21-hydroxylase
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.
DOMAIN: The leucine-rich hydrophobic amino acid N-terminal region probably helps to anchor the protein to the microsomal membrane. POLYMORPHISM: Seven non deleterious alleles are known: CYP21A2*1A, CYP21A2*1B, CYP21A2*2, CYP21A2*3, CYP21A2*4, CYP21A2*5 and CYP21A2*6. The sequence shown corresponds to allele CYP21A2*1B. Deleterious alleles are mostly generated by recombinations between CYP21A2 and the pseudogene CYP21A1P through gene conversion. This process consists of recombination events that either delete CYP21A2 or transfer deleterious mutations from CYP21A1P to CYP21A2.
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).
SIMILARITY: Belongs to the cytochrome P450 family. WEB RESOURCE: Name=Cytochrome P450 Allele Nomenclature Committee; Note=CYP21A2 alleles; URL="http://www.cypalleles.ki.se/cyp21.htm"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP21A2"; WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=CYP21A2";
GENE SYNONYMS: CYP21 CYP21B.
COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
Organism:
- Homo sapiens
Gene Symbol:
- CYP21A2
Synonyms:
- Cytochrome P450-C21B
- 21-OHase
- Cytochrome P450 21
- Cytochrome P450 XXI
- Cytochrome P-450c21
- Cytochrome P450-C21
- 1.14.99.10
Links:
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FUNCTION: Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids. CATALYTIC ACTIVITY: A steroid + AH(2) + O(2) = a 21-hydroxysteroid + A + H(2)O. COFACTOR: Heme group. more...