GENETIC ENCYCLOPEDIA
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gene: CYP11B1

id1584
symbolCYP11B1
organismHomo sapiens
full namecytochrome P450 family 11 subfamily B member 1
summaryThis 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 and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
variant-disease

CYP11B1, 954G-A AND Deficiency of steroid 11-beta-monooxygenase

NM_000497.3(CYP11B1):c.124C>T (p.Pro42Ser) AND Congenital adrenal hyperplasia

NM_000497.3(CYP11B1):c.*1258G>A AND Congenital adrenal hyperplasia

NM_000497.3(CYP11B1):c.*1138delA AND Hyperaldosteronism, familial, type I

NM_000497.3(CYP11B1):c.*634G>A AND Congenital adrenal hyperplasia

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