cytochrome P450 11B2 (cytochrome P450 C18, CYPC18, steroid-11-hydroxylase B2, CYP11B2, aldosterone synthase, steroid 18-hydroxylase)
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Function
- catalyzes the conversion of 11-deoxycorticosterone to aldosterone via corticosterone & 18-hydroxycorticosterone
Compartment
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
More general terms
References
- ↑ OMIM https://mirror.omim.org/entry/124080
- ↑ Uniprot http://www.uniprot.org/uniprot/P19099.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP11B2
- ↑ Wikipedia; Note: CYP11B2 entry http://en.wikipedia.org/wiki/CYP11B2
Database
- UniProt: http://www.uniprot.org/uniprot/P19099.html
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1585
- OMIM: https://mirror.omim.org/entry/103900
- OMIM: https://mirror.omim.org/entry/124080
- OMIM: https://mirror.omim.org/entry/203400
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1585