TM6SF2 Antibody

1. TM6SF2 is a significant factor in determining the risk of non-alcoholic steatohepatitis (NASH) and substantial fibrosis. PMID: 29193269
2. Studies have identified both detrimental and protective mutations in MTTP, PNPLA3, and TM6SF2 in Japanese males at risk for non-alcoholic fatty liver disease. PMID: 28950858
3. Research has explored the influence of rs58542926, a missense variant in TM6SF2 involved in lipid metabolic process regulation, on aminotransferase levels in the bloodstream. Notably, findings indicate that the rs58542926 variant exerts a moderate yet statistically significant effect on circulating levels of both ALT and AST in individuals with NAFLD, but not in those with chronic viral hepatitis. PMID: 27278285
4. Hepatic synthesis of lipids containing polyunsaturated fatty acids is impaired in individuals carrying the TM6SF2 E167K gene variant. PMID: 28235613
5. In Finnish individuals, the TM6SF2 rs58542926 genotype has been associated with elevated serum tyrosine levels and a reduction in apoB-100 particles. PMID: 28539357
6. The TM6SF2 C>T polymorphism influences nutrient oxidation, glucose homeostasis, and postprandial lipoprotein, adipokine, and GIP responses to fat ingestion, independent of fasting values. PMID: 28242789
7. Evidence suggests that rs58542926 (E167K) and rs187429064 (L156P) are functional variants that influence metabolic traits by altering TM6SF2 protein stability. PMID: 28449094
8. Children carrying the T allele of the MBOAT7 polymorphism exhibited higher plasma alanine aminotransferase levels compared to non-carriers; children with variants in MBOAT7, PNPLA3, and TM6SF2 had the highest plasma ALT. PMID: 27411039
9. Individuals carrying the 167K allele exhibit elevated plasma alanine aminotransferase but lower plasma triglycerides and total and LDL cholesterol levels compared to non-carriers, even in childhood. PMID: 26756786
10. Cells with TM6SF2 knock-down have been observed to secrete lipoprotein-like particles. PMID: 28434889
11. TM6SF2 has been linked to adiposity and the risk of nonalcoholic fatty liver disease. PMID: 28436986
12. Fibrosis stages were impacted by the PNPLA3 (P = 0.042) and MBOAT7 (P = 0.021) polymorphisms but not by the TM6SF2 polymorphism (P > 0.05). Variants in PNPLA3, TM6SF2, and MBOAT7 are associated with increased liver injury. The TM6SF2 variant appears to primarily modulate hepatic fat accumulation, while the MBOAT7 polymorphism is linked to fibrosis. The PNPLA3 polymorphism confers risk for both increased steatosis and fibrosis. PMID: 27836992
13. The TM6SF2 E167K substitution contributes to steatosis and lipid abnormalities, in part, by altering TM6SF2 and microsomal triglyceride transfer protein expression. It also differentially impacts chronic hepatitis C and chronic hepatitis B viral load. PMID: 26822232
14. Data suggest that a polymorphism in TM6SF2 (E167K) affects the cell cycle of hepatocellular carcinoma cell lines and is involved in gene expression regulation. PMID: 28407767
15. In HIV/HCV coinfection, the TM6SF2 E167K variant is an independent predictor of severe fibrosis, but appears to be independently associated with severe steatosis only in patients with a non-3 HCV genotype. PMID: 27784963
16. Researchers found no association between TM6SF2 genotype and histological features, including fibrosis stage, in a cohort of Japanese patients with NAFLD. PMID: 26610348
17. Expression of TM6SF2 has been shown to promote cholesterol biosynthesis in hepatocytes. PMID: 26774178
18. The TM6SF2 p.E167K variant has been linked to non-alcoholic fatty liver disease. PMID: 26745555
19. Findings indicate that the TM6SF2 167K variant is associated with a higher prevalence of hepatic steatosis. PMID: 26520056
20. The presence of transmembrane 6 superfamily 2 C/T or T/T variants in conjunction with patatin-like phospho-lipase domain-containing protein 3 G/G variants may represent potential genetic risk factors for the development of hepatocellular carcinoma in alcohol-related cirrhosis. PMID: 26493626
21. TM6SF2 rs58542926 is not associated with steatosis and fibrosis in a large cohort of patients with genotype 1 Chronic hepatitis C. PMID: 26259026
22. This study investigated the association between TM6SF2 rs58542926 and health service utilization in the general population. TM6SF2 rs58542926 was found to be associated with the number of outpatient visits, hospitalizations, and inpatient days. PMID: 26847197
23. Research has examined the effects of treating liver fat and serum triglyceride levels in NAFLD, considering the influence of PNPLA3 and TM6SF2 genotypes on the administration of Omacor. PMID: 26272871
24. While the TMS6SF2 E167K variant predisposes obese children to NAFLD, there is an association between this variant and lower levels of cardiovascular risk factors, highlighting the differential effects of the TMS6SF2 E167K variant on liver and heart health. PMID: 25893821
25. Variants in the TM6SF2 gene have been associated with alcohol-related cirrhosis. PMID: 26482880
26. The rs58542926 SNP in the TM6SF2 gene is associated with pediatric nonalcoholic fatty liver disease, but may offer protection against cardiovascular risk. PMID: 26457389
27. TM6SF2 polymorphism is an independent predictor of liver steatosis in patients with chronic hepatitis C. PMID: 25581573
28. In a Han Chinese population cohort, the TM6SF2 E167K allele is significantly associated with non-alcoholic fatty liver disease. PMID: 25687425
29. While the TM6SF2-rs58542926 variant confers protection against cardiovascular disease at the expense of an increased risk of nonalcoholic fatty liver, it does not fully explain the connection between these two complex diseases. PMID: 26331730
30. TM6SF2-rs58542926 has a dual and opposing role, protecting against cardiovascular disease while also conferring risk for nonalcoholic fatty liver. PMID: 26331730
31. TM6SF2 expression is significantly reduced in the liver of patients with NAFLD, and the rs58542926 variant may regulate liver transcript and protein expression in an allele-specific manner. PMID: 25302781
32. The E167K variant in TM6SF2 is associated with a distinct subtype of NAFLD, characterized by preserved insulin sensitivity with regard to lipolysis, hepatic glucose production, and the absence of hypertriglyceridemia, despite a clear increase in liver fat content. PMID: 25457209
33. TM6SF2 rs58542926 has been linked to the progression of hepatic fibrosis in patients with non-alcoholic fatty liver disease. PMID: 24978903
34. The E167K variant influences the severity of steatosis and is associated with liver damage and fibrosis in patients with chronic hepatitis C. PMID: 25820484
35. The TM6SF2 variant is uncommon in the Chinese population with non-alcoholic fatty liver disease. PMID: 24824280
36. rs58542926 is associated with nonalcoholic fatty liver disease and metabolic syndrome. PMID: 25639710
37. Individuals carrying the TM6SF2 E167K variant are more susceptible to progressive nonalcoholic steatohepatitis but are protected against cardiovascular disease. PMID: 25251399
38. rs58542926 is a low-frequency variant with a modest effect on nonalcoholic fatty liver. PMID: 25302781
39. TM6SF2 is a regulator of liver fat metabolism, with opposing effects on the secretion of TRLs and hepatic lipid droplet content. PMID: 24927523
40. The non-synonymous TM6SF2 SNP coding Glu167Lys is associated not only with the presence of Non-Alcoholic Fatty Liver Disease (NAFLD) but also with the clinically relevant histological endpoint of advanced hepatic fibrosis/cirrhosis. PMID: 24978903
41. TM6SF2 activity is essential for normal very-low-density lipoprotein secretion; impaired TM6SF2 function causally contributes to Nonalcoholic fatty liver disease. PMID: 24531328
42. The TM6SF2 variant (Glu167Lys) influences total cholesterol levels and is associated with myocardial infarction. PMID: 24633158

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HGNC: 11861

OMIM: 606563

KEGG: hsa:53345

STRING: 9606.ENSP00000374014

UniGene: Hs.531624