CYP17A (17-alpha-hydroxylase/17,20-lyase) is important for the conversion of pregnenolone and progesterone to dehydroepiandrosterone (DHEA) and androstenedione. In this process, it catalyzes both the 17-alpha-hydroxylation and the 17,20-lyase reaction. CYP17A1 is crucial during sexual development, both during fetal development and during puberty, and is intracellularly regulated by cAMP levels. Defects in the CYP17A1 gene, which encodes for the protein, may cause adrenal hyperplasia type V (AH-V) which is characterized by hypokalemia and hypertension. Male patients affected by AH-V do not undergo normal sexual differentiation and develop female external genitalia and do not undergo pubertal develoment.
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Protein Aliases: 17-alpha-hydroxyprogesterone aldolase; CPT7; CYP17; CYP17A1; CYPXVII; Cytochrome P450 17A1; cytochrome p450 XVIIA1; cytochrome P450, family 17; cytochrome P450, family 17, subfamily A, polypeptide 1; cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia; Cytochrome P450-C17; Cytochrome P450c17; HGNC:2593; P450C17; S17AH; Steroid 17-alpha-hydroxylase/17,20 lyase; Steroid 17-alpha-monooxygenase; steroid 17-alpha-monooxygenase, 17a-hydroxylase
Gene Aliases: CPT7; CYP17; CYP17A1; P450C17; S17AH
UniProt ID: (Human) P05093
Entrez Gene ID: (Human) 1586