Title : A novel compound heterozygous mutation in the CYP17 (P450 17alpha-hydroxylase) gene leading to 17alpha-hydroxylase/17,20-lyase deficiency.

Pub. Date : 2003 Apr

PMID : 12701064






1 Functional Relationships(s)
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1 Mutations in the CYP17 gene impair steroid biosynthesis in the adrenals and gonads and often cause 17alpha-hydroxylase/17,20-lyase deficiency, leading to amenorrhea, sexual infantilism, and hypokalemic low aldosterone hypertension. Steroids cytochrome P450 family 17 subfamily A member 1 Homo sapiens