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cytochrome P450 21A2; cytochrome P450 21; steroid-21-beta-hydroxylase (CYP21A2, CYP21B)
Function:
1) catalyzes the 21-hydroxylation of steroids
2) involved in adrenal synthesis of glucocorticoids & mineralocorticoids
Structure:
- N-terminal leucine-rich region probably helps to anchor CYP21A2 to the microsomal membrane
- belongs to the cytochrome P450 family
Compartment:
- endoplasmic reticulum membrane
- peripheral membrane, microsome membrane
Pathology:
- defects in CYP21A2 are the cause of congenital adrenal hyperplasia type 3
Related
adrenal steroid biosynthesis
congenital adrenal hyperplasia (21-hydroxylase deficiency)
General
cytochrome P450
steroid hydroxylase
Properties
SIZE: MW = 56 kD
entity length = 494 aa
COMPARTMENT: smooth endoplasmic reticulum
MOTIF: leucine-rich region {N-TERMINAL}
MOTIF: leucine residue (SEVERAL)
binding site
SITE: 342-358
FOR-BINDING-OF: steroid
Iron [Fe]-binding site
SITE: 428-428
Database Correlations
OMIM 201910
UniProt P08686
Pfam PF00067
Entrez Gene 1589
ENZYME 1.14.99.10
References
- OMIM :accession 201910
- cytochrome P450 Allele Nomenclature committee, CYP21A2 alleles
http://www.cypalleles.ki.se/cyp21.htm
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP21A2
- SHMPD, The Singapore human mutation and polymorphism database
http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=CYP21A2
- UniProt :accession P08686
- 21-Hydroxylase Autoantibodies, Serum
Laboratory Test Directory ARUP: 3001962
Component-of
multienzyme complex