CYP17A1 Antibody – Mouse Monoclonal

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]

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.

Protein type: EC 4.1.2.30; Oxidoreductase; Lipid Metabolism - C21-steroid hormone; EC 1.14.99.9

Chromosomal Location of Human Ortholog: 10q24.3

Cellular Component: endoplasmic reticulum membrane; cell soma; mitochondrion; endoplasmic reticulum; axon

Molecular Function: 17-alpha-hydroxyprogesterone aldolase activity; steroid 17-alpha-monooxygenase activity; iron ion binding; heme binding; oxygen binding

Biological Process: steroid metabolic process; response to cAMP; dibenzo-p-dioxin metabolic process; progesterone metabolic process; androgen biosynthetic process; response to insecticide; Leydig cell differentiation; biphenyl metabolic process; response to methylmercury; hormone biosynthetic process; response to nutrient levels; response to drug; response to retinoic acid; adrenal gland development; phthalate metabolic process; hippocampus development; response to herbicide; ovulation; response to acetate; response to steroid hormone stimulus; response to cytokine stimulus; xenobiotic metabolic process; response to ionizing radiation; glucocorticoid biosynthetic process; sterol metabolic process; steroid biosynthetic process; sex differentiation; phenol metabolic process

Disease: Adrenal Hyperplasia, Congenital, Due To 17-alpha-hydroxylase Deficiency