rs5304

This variant is located in the CYP11B1 gene.

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11-beta-monooxygenase; not provided

About CYP11B1

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 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]

View all CYP11B1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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