Steroid 17-Alpha-Hydroxylase/17,20 Lyase (CYP17A1) Antibody – Rabbit Polyclonal

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; EC 1.14.99.9; Lipid Metabolism - C21-steroid hormone

Chromosomal Location of Human Ortholog: 10q24.3

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

Molecular Function: 17-alpha-hydroxyprogesterone aldolase activity; heme binding; iron ion binding; oxygen 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; 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 retinoic acid; response to steroid hormone stimulus; sex differentiation; steroid biosynthetic process; steroid metabolic process; sterol metabolic process; xenobiotic metabolic process

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