rs367833709

This is a protein-altering variant in the CYP17A1 gene.

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ClinVar annotation

Pathogenic★★★☆

3 submitters11 publications

not provided; Deficiency of steroid 17-alpha-monooxygenase; Congenital adrenal hyperplasia

About CYP17A1

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 endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]

View all CYP17A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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