Aliases for CYP17A1 Gene
- Cytochrome P450, Family 17, Subfamily A, Polypeptide 1 2 3
- Steroid 17-Alpha-Monooxygenase 2 3 4
- CYP17 3 4 6
- Cytochrome P450, Subfamily XVII (Steroid 17-Alpha-Hydroxylase), Adrenal Hyperplasia 2 3
- 17-Alpha-Hydroxyprogesterone Aldolase 3 4
- Cytochrome P450 17A1 3 4
- Cytochrome P450-C17 3 4
- Cytochrome P450c17 3 4
- EC 188.8.131.52 4 63
External Ids for CYP17A1 Gene
Previous HGNC Symbols for CYP17A1 Gene
Previous GeneCards Identifiers for CYP17A1 Gene
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]
GeneCards Summary for CYP17A1 Gene
CYP17A1 (Cytochrome P450, Family 17, Subfamily A, Polypeptide 1) is a Protein Coding gene. Diseases associated with CYP17A1 include 17-alpha-hydroxylase/17,20-lyase deficiency and 17-alpha-hydroxylase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP21A2.
UniProtKB/Swiss-Prot for CYP17A1 Gene
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.
Cytochrome P450 (CYP450) enzymes are a diverse group of catalysts that contains 57 members in humans. CYPs are usually membrane-bound and are localized to the inner mitochondrial or endoplasmic reticular membrane. CYPs have oxygenase activity and commonly catalyze redox reactions, involving the oxidation of the substrate and reduction of water. This group of enzymes contain a heme ion within the active site, which is essential for catalytic activity. CYPs have been found in all organisms tested and are ubiquitously expressed. They are found at high levels in the liver, where they have an important role in metabolism of drugs and endogenous toxic compounds (for example bilirubin). Most CYPs can metabolize numerous substrates and this accounts for their major role in drug interactions. CYPs also have functions in steroid hormone synthesis, cholesterol synthesis and vitamin D metabolism.