cytochrome P450 21A2; cytochrome P450 21; steroid-21-beta-hydroxylase (CYP21A2, CYP21B)
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Function
- catalyzes the 21-hydroxylation of steroids
- 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
More general terms
Additional terms
References
- ↑ OMIM https://mirror.omim.org/entry/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 http://www.uniprot.org/uniprot/P08686.html
- ↑ 21-Hydroxylase Autoantibodies, Serum Laboratory Test Directory ARUP: http://www.aruplab.com/guides/ug/tests/0000000.jsp