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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: 1q54
Cellular Component: axon; cell projection; cell soma; endoplasmic reticulum; intracellular membrane-bound organelle; mitochondrion
Molecular Function: 17-alpha-hydroxyprogesterone aldolase activity; heme binding; steroid 17-alpha-monooxygenase activity
Biological Process: adrenal gland development; androgen biosynthetic process; biphenyl metabolic process; dibenzo-p-dioxin metabolic process; glucocorticoid biosynthetic process; hippocampus development; hormone biosynthetic process; Leydig cell differentiation; male gonad development; organic acid metabolic process; ovulation; phenol metabolic process; phthalate metabolic process; progesterone metabolic process; response to acetate; response to cAMP; response to cytokine stimulus; response to drug; response to herbicide; response to insecticide; response to ionizing radiation; response to methylmercury; response to nutrient levels; response to organic cyclic substance; response to organic substance; response to retinoic acid; response to steroid hormone stimulus; response to toxin; steroid biosynthetic process; steroid metabolic process
Reference #:  P11715 (UniProtKB)
Alt. Names/Synonyms: CP17A; Cyp17; Cyp17a1; CYPXVII; Cytochrome P450 17A1; cytochrome P450, family 17, subfamily a, polypeptide 1; cytochrome P450, subfamily 17; Cytochrome P450, subfamily XVII; Cytochrome P450-C17; Cytochrome P450c17; P450-C17; P450c17; Steroid 17-alpha-hydroxylase/17,20 lyase
Gene Symbols: Cyp17a1
Molecular weight: 57,250 Da
Basal Isoelectric point: 6.93  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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