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  4. Recombinant Human Transmembrane 6 superfamily member 2 (TM6SF2), partial

Recombinant Human Transmembrane 6 superfamily member 2 (TM6SF2), partial

  • 货号：
    CSB-YP023622HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP023622HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP023622HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 货号：
    CSB-BP023622HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP023622HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    TM6SF2
  • Uniprot No.：
  • 别名：
    TM6S2_HUMAN; Tm6sf2; Transmembrane 6 superfamily member 2
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content. May function as sterol isomerase.
  • 基因功能参考文献：
    1. TM6SF2 determines the risk of NASH and significant fibrosis. PMID: 29193269
    2. Deleterious and protective mutations in MTTP, PNPLA3, and TM6SF2 have been found in Japanese males at risk for non-alcoholic fatty liver disease. PMID: 28950858
    3. Study explored the influence of rs58542926, a missense variant of TM6SF2 involved in the regulation of lipid metabolic process, on the concentration of aminotransferases in the circulating compartment. Interestingly, the results found that the rs58542926 variant exerts a moderate but statistically significant effect on circulating level of both ALT and AST in patients with NAFLD, but not in chronic viral hepatitis. PMID: 27278285
    4. hepatic synthesis of polyunsaturated fatty acid containing lipids is impaired in TM6SF2 E167K gene variant carriers. PMID: 28235613
    5. association of TM6SF2 rs58542926 genotype with increased serum tyrosine levels and decreased apoB-100 particles in Finns PMID: 28539357
    6. the TM6SF2 C>T polymorphism affects nutrient oxidation, glucose homeostasis, and postprandial lipoprotein, adipokine, and GIP responses to fat ingestion independently of fasting values PMID: 28242789
    7. These data demonstrate that rs58542926 (E167K) and rs187429064 (L156P) are functional variants and suggest that they influence metabolic traits through altered TM6SF2 protein stability. PMID: 28449094
    8. Children carrying the T allele of the MBOAT7 polymorphism had higher plasma alanine aminotransferase than the noncarriers; children with the MBOAT7, PNPLA3, and TM6SF2 variants had the highest plasma ALT PMID: 27411039
    9. carriers of the 167K allele have higher plasma alanine aminotransferase but lower plasma triglycerides and total and LDL cholesterol than the noncarriers already in childhood PMID: 26756786
    10. The TM6SF2 knock-down cells secreted lipoprotein-like particles. PMID: 28434889
    11. TM6SF2 association with adiposity and the risk of the nonalcoholic fatty liver disease PMID: 28436986
    12. Fibrosis stages were affected by the PNPLA3 (P = 0.042) and MBOAT7 (P = 0.021) but not by the TM6SF2 polymorphism (P > 0.05). The PNPLA3, TM6SF2, and MBOAT7 variants are associated with increased liver injury. The TM6SF2 variant seems to modulate predominantly hepatic fat accumulation, whereas the MBOAT7 polymorphism is linked to fibrosis. The PNPLA3 polymorphism confers risk of both increased steatosis and fibrosis PMID: 27836992
    13. The TM6SF2 E167K substitution promotes steatosis and lipid abnormalities in part by altering TM6SF2 and microsomal triglyceride transfer protein expression and differentially impacts chronic hepatitis C and chronic hepatitis B viral load. PMID: 26822232
    14. Data suggest that a polymorphism in TM6SF2 (E167K) affects cell cycle of hepatocellular carcinoma cell line 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 for patients with a non-3 HCV genotype PMID: 27784963
    16. The investigator looked for but could not find any affect of TM6SF2 genotype on histological features, including stage of fibrosis in NAFLD Japanese patients. PMID: 26610348
    17. Expression of TM6SF2 promoted cholesterol biosynthesis in hepatocytes. PMID: 26774178
    18. The TM6SF2 p.E167K variant is associated with non-alcoholic fatty liver disease. PMID: 26745555
    19. In summary we found the TM6SF2 167K variant is associated with a higher prevalence of hepatic steatosis. PMID: 26520056
    20. 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 be potential genetic risk factors for developing HCC in alcohol-related cirrhosis. PMID: 26493626
    21. TM6SF2 rs58542926 is not associated with steatosis and fibrosis in large cohort of patients with genotype 1 Chronic hepatitis C. PMID: 26259026
    22. This study investigates the association between TM6SF2 rs58542926 with health services utilization in a general population. TM6SF2 rs58542926 was associated with the number of outpatient visits, hospitalization, and inpatient days. PMID: 26847197
    23. Treating liver fat and serum triglyceride levels in NAFLD, effects of PNPLA3 and TM6SF2 genotypes: effect of Omacor administration. PMID: 26272871
    24. Although the TMS6SF2 E167K variant predisposes obese children to NAFLD, there is an association between this variant and lower levels of cardiovasc risk factors: differential effects of TMS6SF2 E167K variant on liver and heart health. PMID: 25893821
    25. Variants in the TM6SF2 gene is 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 confer 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. Although the TM6SF2-rs58542926 variant confers protection against cardiovascular disease at the expense of an increased risk of nonalcoholic fatty liver, it does not explain the link between these two complex diseases. PMID: 26331730
    30. TM6SF2-rs58542926 has a dual and opposite role in protecting against cardiovascular disease and conferring risk for nonalcoholic fatty liver. PMID: 26331730
    31. TM6SF2 expression is significantly decreased in the liver of patients with NAFLD, and rs58542926 variant might 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 lack of hypertriglyceridemia despite a clearly increased liver fat content PMID: 25457209
    33. TM6SF2 rs58542926 is associated with hepatic fibrosis progression in patients with non-alcoholic fatty liver disease. PMID: 24978903
    34. E167K variant impacts on steatosis severity and is associated with liver damage and fibrosis in patients with chronic hepatitis C PMID: 25820484
    35. The TM6SF2 variant is rare 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. Carriers of 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 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 required for normal very-low-density lipoprotein secretion; impaired TM6SF2 function causally contributes to Nonalcoholic fatty liver disease. PMID: 24531328
    42. TM6SF2 variant (Glu167Lys) influences total cholesterol levels and is associated with myocardial infarction. PMID: 24633158

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  • 亚细胞定位：
    Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein.
  • 蛋白家族：
    TM6SF family
  • 组织特异性：
    Substantial expression in liver and intestine, whereas all other tissues analyzed show low levels.
  • 数据库链接：

    HGNC: 11861

    OMIM: 606563

    KEGG: hsa:53345

    STRING: 9606.ENSP00000374014

    UniGene: Hs.531624