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cytochrome P450 11B2 (cytochrome P450 C18, CYPC18, steroid-11-hydroxylase B2, CYP11B2, aldosterone synthase, steroid 18-hydroxylase)
Function:
- catalyzes the conversion of 11-deoxycorticosterone to aldosterone via corticosterone & 18-hydroxycorticosterone
Compartment: mitochondrial membrane
Pathology:
- defects in CYP11B2 are the cause of aldosterone deficiency 1
- an anti-Lepore-type fusion of the CYP11B2 & CYP11B1 genes is a cause of glucocorticoid-remediable aldosteronism
Related
steroid-11-hydroxylase-B2 gene or CYP11B2
General
cytochrome P450 11B (steroid-11-beta hydroxylase)
Properties
SIZE: MW = 58 kD
entity length = 503 aa
COMPARTMENT: mitochondria
MOTIF: Iron [Fe]-binding site
SITE: 450-450
Database Correlations
OMIM correlations
UniProt P19099
Pfam PF00067
Entrez Gene 1585
Kegg hsa:1585
ENZYME correlations
References
- OMIM :accession 124080
- Uniprot :accession P19099
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP11B2
- Wikipedia; Note: CYP11B2 entry
http://en.wikipedia.org/wiki/CYP11B2