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CYP17A1 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. Defects in CYP17A1 are the cause of adrenal hyperplasia type 5 (AH5). 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). Belongs to the cytochrome P450 family. Note: This description may include information from UniProtKB.
Protein type: EC; EC; Lipid Metabolism - C21-steroid hormone; Oxidoreductase
Chromosomal Location of Human Ortholog: 10q24.32
Cellular Component: endoplasmic reticulum membrane
Molecular Function: 17-alpha-hydroxyprogesterone aldolase activity; heme binding; oxygen binding; steroid 17-alpha-monooxygenase activity
Biological Process: androgen biosynthetic process; glucocorticoid biosynthetic process; hormone biosynthetic process; progesterone metabolic process; sex differentiation; steroid biosynthetic process; steroid metabolic process; sterol metabolic process
Disease: Adrenal Hyperplasia, Congenital, Due To 17-alpha-hydroxylase Deficiency
Reference #:  P05093 (UniProtKB)
Alt. Names/Synonyms: CP17A; CPT7; CYP17; CYP17A1; CYPXVII; Cytochrome P450 17A1; cytochrome p450 XVIIA1; cytochrome P450, family 17, subfamily A, polypeptide 1; cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia; Cytochrome P450-C17; Cytochrome P450c17; P450C17; S17AH; Steroid 17-alpha-hydroxylase/17,20 lyase; Steroid 17-alpha-monooxygenase
Gene Symbols: CYP17A1
Molecular weight: 57,371 Da
Basal Isoelectric point: 8.72  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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