CYP17A1


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CYP17A1

A gene on chromosome 10q24.3 that encodes a member of the cytochrome P450 superfamily of enzymes, which catalyse reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. CYP17A1 localises to the endoplasmic reticulum and has 17 alpha-hydroxylase and 17, 20-lyase activities; it is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens and oestrogens.

Molecular pathology
CYP17A1 mutations are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17, 20-lyase deficiency, pseudohermaphroditism and adrenal hyperplasia.
References in periodicals archive ?
Association of common variants in/near six genes (ATP2B1, CSK, MTHFR, CYP17A1, STK39 and FGF5) with blood pressure/hypertension risk in Chinese children.
In these pathways, ovarian gene expression of Luteinizing Hormone/Choriogonadotropin Receptor (Lhcgr), Steroidogenic Acute Regulatory Protein (Star), Cytochrome P450 Family 11 Subfamily A Member 1 (Cyp11a1), Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- and Steroid Delta Isomerase 1 (Hsd3b1), Cytochrome P450 Family 17 Subfamily A Member 1 (Cyp17a1), Follicle Stimulating Hormone Receptor (Fshr), Cytochrome P450 Family 19 Subfamily A Member 1 (Cyp19a1), and Hydroxysteroid 17-Beta Dehydrogenase 1 (Hsd17b1) were examined (Figure 6A).
The disease is caused by biallelic mutations in the CYP17A1 gene, encoding the enzyme 17[alpha]-hydroxyprogesterone (OHP) aldolase (Cytochrome P450c17) catalyzing the conversion of pregnenolone and progesterone to their 17-alpha-hydroxylated products and subsequently to dehydroepiandrosterone (DHEA) and androstenedione ([DELTA]4A) via 17[alpha]-hydroxylation and the 17,20-lyase reaction.
Additionally, the quality and purity of samples used was determined with specific primers GAPDH (glyceraldehyde-3-phosphate dehydrogenase), for oocyte (ZAR1: zygote arrest-1), granulosa cells (CYP19A1: cytochrome P450, family 19, subfamily A, polypeptide 1) and theca cells (CYP17A1: cytochrome P450, family 17, subfamily A, polypeptide 1) as suggested Hatzirodos et al (11) (Table 1).
Nonstandard abbreviations: StAR, steroidogenic acute regulatory protein; CYP11A1, P450 side-chain cleavage enzyme; CYP11B1, 11[beta] hydroxylase; CYP11B2, aldosterone synthase; CYP17A1, 17 [alpha]-hydroxylase/ 17,20-lyase; CYP21A2,21-hydroxylase; HSD3B2, 3[beta]-hydroxysteroid dehydrogenase type 2; HSD11B1, 11[beta]-hydroxysteroid dehydrogenase type 1; HSD11B2, 11[beta]-hydroxysteroid dehydrogenase type 2; HSD17B, 17 [beta]-hydroxysteroid dehydrogenase; SRD5A2, 5[alpha]-reductase type 2; CYP19A1, P450 Aromatase; SULT2A1, sulfotransferase 2A1.
In the case of sturgeons, which have complex genomes, NGS allows the transcriptome analysis and gives information on possible differences between males and females in expression and presence of various genes (dmrt1, tra-1, wt1, lhx1, cyp19A1, fhl3, fem1a, gsdf, foxl2, ar, emx2, cyp17a1, etc.) that may be involved in the sexual development processes in different sturgeon species [7, 31-33].
Mutations in the cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene located on chromosome 10q24.3 lead to the rare deficiency of 17[alpha]-hydroxylase/17,20-lyase [4].
Abiraterone selectively and irreversibly inhibits cytochrome P450 17A1 (CYP17A1) and consequently blocks androgen biosynthesis.
The relative mRNA levels of the 11[beta]-hydroxylase (CYP11B1), aldosterone synthase (CYP11B2), and 17ahydroxylase (CYP17A1) genes were standardized to GAPDH using the [2.sup.-[DELTA][DELTA]CT] method.
Baek, "Association study for single nucleotide polymorphisms in the CYP17A1 gene and polycystic ovary syndrome," International Journal of Molecular Medicine, vol.
Common variants in or near FGF5, CYP17A1 and MTHFR genes are associated with blood pressure and hypertension in Chinese Hans.
Letrozole increases growth of rat theca-interstitial cells and Cyp17a1 gene expression in the rat ovary.