Aliases for CYP17A1 Gene
- Cytochrome P450 Family 17 Subfamily A Member 1 2 3 5
- Steroid 17-Alpha-Monooxygenase 2 3 4
- S17AH 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
- Steroid 17-Alpha-Hydroxylase/17,20 Lyase 3 4
- 17-Alpha-Hydroxyprogesterone Aldolase 3 4
- Cytochrome P450 17A1 3 4
- Cytochrome P450-C17 3 4
- Cytochrome P450c17 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 Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency and Transsexualism. Among its related pathways are Androstenedione and testosterone biosynthesis and metabolism p.1 and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen.
UniProtKB/Swiss-Prot Summary for CYP17A1 Gene
A cytochrome P450 monooxygenase involved in corticoid and androgen biosynthesis (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938). Catalyzes 17-alpha hydroxylation of C21 steroids, which is common for both pathways. A second oxidative step, required only for androgen synthesis, involves an acyl-carbon cleavage. The 17-alpha hydroxy intermediates, as part of adrenal glucocorticoids biosynthesis pathway, are precursors of cortisol (PubMed:9452426, PubMed:25301938) (Probable). Hydroxylates steroid hormones, pregnenolone and progesterone to form 17-alpha hydroxy metabolites, followed by the cleavage of the C17-C20 bond to form C19 steroids, dehydroepiandrosterone (DHEA) and androstenedione (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938). Has 16-alpha hydroxylase activity. Catalyzes 16-alpha hydroxylation of 17-alpha hydroxy pregnenolone, followed by the cleavage of the C17-C20 bond to form 16-alpha-hydroxy DHEA. Also 16-alpha hydroxylates androgens, relevant for estriol synthesis (PubMed:27339894, PubMed:25301938). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938).
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.