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Cytochrome P450 17A1
Cytochrome P450 family 17
Cytochrome P450 family 17 subfamily A polypeptide 1
Cytochrome p450 subfamily XVII (steroid 17 alpha hydroxylase) adrenal hyperplasia
Cytochrome p450 XVIIA1
Steroid 17 alpha hydroxylase/17,20 lyase
Steroid 17 alpha monooxygenase
功能Conversion of pregnenolone and progesterone to their 17-alpha-hydroxylated products and subsequently to dehydroepiandrosterone (DHEA) and androstenedione. Catalyzes both the 17-alpha-hydroxylation and the 17,20-lyase reaction. Involved in sexual development during fetal life and at puberty.
通路Lipid metabolism; steroid biosynthesis.
疾病相关Defects in CYP17A1 are the cause of adrenal hyperplasia type 5 (AH5) [MIM:202110]. AH5 is a form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: "salt wasting" (SW, the most severe type), "simple virilizing" (SV, less severely affected patients), with normal aldosterone biosynthesis, "non-classic form" or late onset (NC or LOAH), and "cryptic" (asymptomatic).
序列相似性Belongs to the cytochrome P450 family.
翻译后修饰Phosphorylation is necessary for 17,20-lyase, but not for 17-alpha-hydroxylase activity.