Aliases for CYP17A1 Gene
- Cytochrome P450 Family 17 Subfamily A Member 1 2 3 5
- Steroid 17-Alpha-Monooxygenase 2 3 4
- Cytochrome P450, Subfamily XVII (Steroid 17-Alpha-Hydroxylase), Adrenal Hyperplasia 2 3
- Cytochrome P450, Family 17, Subfamily A, Polypeptide 1 2 3
- 17-Alpha-Hydroxyprogesterone Aldolase 3 4
- Cytochrome P450 17A1 3 4
- Cytochrome P450-C17 3 4
- Cytochrome P450c17 3 4
- CYPXVII 3 4
- CYP17 3 4
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 Member 1) is a Protein Coding gene. Diseases associated with CYP17A1 include 17-alpha-hydroxylase/17,20-lyase deficiency and 46,xy disorder of sex development due to isolated 17,20-lyase deficiency. Among its related pathways are Metabolism and Ovarian steroidogenesis. GO annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. 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.