CYP11B2 Back

cytochrome P450, family 11, subfamily B, polypeptide 2

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NCBI Description of 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.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

CYP11B2 is highly significantly mutated in
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CYP11B2 is significantly mutated in
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CYP11B2 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for CYP11B2