Recombinant Human Steroid 17-alpha-hydroxylase/17,20 lyase (CYP17A1)

1. The single nucleotide polymorphism rs11191548 near CYP17A1 is associated with high-density lipoprotein cholesterol and leptin in Chinese children. These findings provide evidence that HDL and leptin might mediate the process of CYP17A1 involved in hypertension. PMID: 29338791
2. - 34T>C polymorphism in CYP17A1 is associated with polycystic ovary syndrome. PMID: 29564739
3. We present one novel and one ultra rare gene variant with 17-OH deficiency, both described for the first time PMID: 29595516
4. identified a novel compound heterozygous CYP17A1 mutation His373Tyr (c.1117C>T) in a patient with 17alpha-hydroxylase/17,20-lyase deficiency. PMID: 29278670
5. the rs11191548 CYP17A1 gene mutation was associated with hypertension and the serum 25(OH) D levels in Han Chinese PMID: 29556032
6. T allele of rs743572 T polymorphism might predict high susceptibility to endometriosis, but it had no significant influence on characteristics and severity of endometriosis. PMID: 29995789
7. A polymorphism in the CYP17A1 gene was associated with the response to steroidogenesis inhibitors in Cushing's syndrome. PMID: 28665508
8. A single-point mutation at asparagine 202 in the active site pocket of CYP17A1, even when far from the heme, has profound effects on steroidogenic selectivity in androgen biosynthesis. In the mutant the 17alpha alcohol of OHPROG forms a H-bond with the proximal rather than terminal oxygen of the oxy-ferrous complex.When OHPREG was a substrate, the mutant was found to have weak H-bonding interaction with the proximal ox... PMID: 29283561
9. VT-464 reduces androgen receptor (AR) signaling more effectively than abiraterone in cultured PCa cells expressing T877A AR mutant PMID: 27748439
10. To our knowledge, this is the first study showing that the CYP17 T-34C and CYP19 TPMID: 29285776
11. the CYP17A1 polymorphisms could be a genetic risk factor for essential hypertension among the Yunnan Han Chinese population. PMID: 28537227
12. one CYP17A1 mutation (p.Arg362Cys) may share a common ancestry in Brazilian and present Spanish patients, while p.Trp406Arg may have arisen separately. PMID: 28376482
13. the CYP17CC genotype was significantly associated with developmental stuttering PMID: 28992603
14. A novel nonsense mutation in androgen receptor confers resistance to CYP17A1 inhibitor treatment in prostate cancer. PMID: 28036278
15. The mechanism of action, the efficacy and the clinical potential of CYP17A1 inhibitors in prostate cancer are also summarized. [review] PMID: 29372682
16. through mouse-to-human search and validation, we found that CYP17A1 is overexpressed in hepatocellular carcinomas and it has great potentiality as a noninvasive marker for hepatocellular carcinoma detection PMID: 27339169
17. Nominally significant parental genetic effects were found between the SNPs rs11191548 (CYP17A1) (paternal, beta = 2.78+/-1.49, P = 6.1x10-2 for SBP and beta = 3.60+/-1.24, P = 3.7x10-3 for DBP), rs17367504 (MTHFR) (paternal, beta = 2.42+/-0.93, P = 9.3x10-3 for SBP and beta = 1.89+/-0.80, P = 1.8x10-2 for DBP and maternal, beta = -1.32+/-0.60, P = 2.9x10-2 and beta = -1.97+/-0.77, P = 1.0x10-2, for SBP and DBP respecti... PMID: 29045471
18. Wild-type CYP17 allele when combined with LOH/MSI in steroid metabolism genes may play a role in ER and/or PR negative breast cancers. PMID: 28692125
19. Data suggest CYP17A1, with electron donor NADPH-P450 reductase, is inherently distributive enzyme but that some processivity is present; some 17alpha-hydroxy pregnenolone formed does not dissociate from CYP17A1 before conversion to dehydroepiandrosterone; CYP5A does not enhance reaction by decreasing k(off) of ligands of CYP17A1. (CYP17A1 = cytochrome P450, family 17, subfamily A, polypeptide 1; CYP5A = cytochrome b5) PMID: 28684414
20. we identified a novel (K144del) and a widely reported (Y329 fs) heterozygous mutations of CYP17A1 gene from a 17OHD patient. Haplotyping analysis showed the common mutation Y329 fs in China came from the same ancestor, which explains the reason that 17OHD was the second cause of congenital adrenal hyperplasia in China. PMID: 27150612
21. The activities of P450 17A1 are regulated by cyt b5 that enhances the 17,20-lyase reaction by promoting the coupling of P450 17A1 and cytochrome P450 reductase (CPR), allosterically. Cyt b5 can also act as an electron donor to enhance the 16-ene-synthase activity of human P450 17A1. PMID: 26976652
22. The results showed that CYP17A1 gene was not conclusively linked to either Insulin resistance (IR) or its associated increased androgen secretion in non-obese women with polycystic ovarian syndrome (PCOS). We propose that an increased sensitivity of insulin on the ovarian cells may be the predominant reason for the clinical effects and symptoms of androgen excess observed in non-obese PCOS patients in our region. PMID: 27748298
23. CYP17A1 defects were associated with amenorrhea, ovarian macrocysts and the diagnosis of 46, XX syndrome. PMID: 26920256
24. The discovery of these specific drug actions on steroidogenic enzyme activities would be valuable for understanding the regulation of androgens. PMID: 27395338
25. For the naturally occurring P450 17A1 mutations E305G and R347H, which impair 17,20-lyase activity, cytochrome b5 failed to rescue the poor coupling with 17-hydroxypregnenolone (2-4%). When the conserved active-site threonine was mutated to alanine (T306A), both the activity and coupling were markedly decreased with all substrates. PMID: 27426448
26. Mechanism of 17alpha,20-Lyase and New Hydroxylation Reactions of Human Cytochrome P450 17A1: 18O LABELING AND OXYGEN SURROGATE EVIDENCE FOR A ROLE OF A PERFERRYL OXYGEN. PMID: 27339894
27. The intensity of menopausal symptoms related to mood is higher among postmenopausal women presenting the GG genotype of the rs743572 polymorphism of the CYP17 A1 gene. PMID: 27117436
28. The analyzed polymorphisms in CYP17A1 do not seem to be correlated with clinical outcome of castration-resistant prostate cancer patients treated with abiraterone. PMID: 26954071
29. The common genetic variant rs2486758 in CYP17A1 was negatively associated with a biochemical response to and time to biochemical progression in patients treatment on abiraterone acetate and prednisone within metastatic castration-resistant prostate cancer. PMID: 27409606
30. CYP17 Gene Polymorphism is not associated with Breast Cancer. PMID: 27165202
31. CYP17 Gene Polymorphism is associated with Pancreatic Cancer. PMID: 27165211
32. CYP17 gene might be a risk factor for prostate cancer in males of advanced age. PMID: 26985923
33. Results show high level of CYP17A1 mRNA level in postmenopausal invasive ductal cancer which correlates with tumor prognosis. PMID: 27365044
34. No significant association between CYP17-34T/C polymorphism and insulin resistance was found in Thai polycystic ovary syndrome women, although the A2/X genotype group was statistically significantly younger than the A1/A1 genotype group. PMID: 26096606
35. the meta-analysis suggested that the CYP17 gene polymorphism was not associated with endometriosis risk. PMID: 25511200
36. Low apparent CYP17A1 activity is associated with elevated daytime ambulatory blood pressure when salt intake is high. CYP17A1 activity is heritable and diminished in the elderly. PMID: 26297028
37. The present meta-analysis confirmed the significant association between a polymorphism of the CYP17A1 gene and hypertension susceptibility. PMID: 25990650
38. CYP17A1 rs3824755 and rs743572 are associated with Alzheimer's disease in the Chinese Han population and act in combination with APOE e4. PMID: 26940238
39. Data indicate that cytochrome P450 17A1 (CYP17A1) first catalyzes pregnenolone (PREG) and then converts the 17-hydroxypregnenolone initial product to dehydroepiandrosterone, a process representing the first committed step in the biosynthesis of androgens. PMID: 26668369
40. Polymorphism single nucleotide of CYP17A1 gene is implicated to the development of high blood pressure. PMID: 26902494
41. The FMN domain outcompetes b5 for binding to CYP17A1 in the three-component system PMID: 26719338
42. Our study suggests no strong association between the CYP17A1 T27C and LEP -2548G>A polymorphisms and the incidence of breast cancer in Turkish women. PMID: 26407154
43. Interaction of novel oxazoline derivatives of 17(20)e-pregna-5,17(20)-diene with cytochrome P450 17A1 PMID: 26973185
44. The compound heterozygous mutation of p. Thr101Ilefs*2 and p. Thr306Ale is a new gene mutation of 17alpha-hydroxylase/17, 20-lyase deficiency. PMID: 26345865
45. genetic variants in the androgen-related genes CYP17A1 and JMJD1C might be associated with risk of Barrett's esophagus (BE) and esophageal adenocarcinoma (EAC). PMID: 26414697
46. Thus, CYP17A1 may contribute to cardiac hypertrophy in this clinical condition. PMID: 26263970
47. Cytochrome-17 Gene Polymorphism is associated with Risk of Gall Bladder Stones and Cancer. PMID: 26225710
48. CYP17A1 mutation is associated with 17alpha-Hydroxylase/17-20 lyase deficiency leading to congenital adrenal hyperplasia. PMID: 25719302
49. Higher organochlorine pesticide levels and the A1A1 genotype of CYP17A1 in pregnant women may be considered as important aetiological factors in idiopathic small for gestational age. PMID: 25064838
50. The aim of the present study was to assess the association between CYP17A1 gene polymorphism and coronary artery disease in a Chinese Uygur population. PMID: 25592814

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HGNC: 2593

OMIM: 202110

KEGG: hsa:1586

STRING: 9606.ENSP00000358903

UniGene: Hs.438016