rs72554627
This is a variant in the CYP11B2 gene that changes a leucine to an proline.
▶ClinVar annotation
About CYP11B2
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008]
View all CYP11B2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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