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  4. Recombinant Human Transmembrane protease serine 6 (TMPRSS6), partial

Recombinant Human Transmembrane protease serine 6 (TMPRSS6), partial

  • 中文名称：
    人TMPRSS6重组蛋白
  • 货号：
    CSB-YP808531HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人TMPRSS6重组蛋白
  • 货号：
    CSB-EP808531HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人TMPRSS6重组蛋白
  • 货号：
    CSB-EP808531HU-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：
  • 中文名称：
    人TMPRSS6重组蛋白
  • 货号：
    CSB-BP808531HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人TMPRSS6重组蛋白
  • 货号：
    CSB-MP808531HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 别名：
    IRIDA; Matriptase-2; Membrane bound mosaic serine proteinase matriptase 2; Membrane type serine proteinase 2; MTSP 2; MTSP2; PVAE354; TMPRSS 6; TMPRSS6; TMPS6_HUMAN; TMSP 6; TMSP6; Transmembrane protease serine 6; Type II Membrane Serine Proteinase 6
  • 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：
    Membrane-bound serine protease. Through the cleavage of cell surface HJV, a regulator of the expression of the iron absorption-regulating hormone hepicidin/HAMP, plays a role in iron homeostasis.
  • 基因功能参考文献：
    1. TMPRSS6 polymorphisms are associated with increased many iron-related hematological parameters in Turkish patients but may not be risk factors for iron deficiency anemia PMID: 29928945
    2. results suggest that mother and child have a novel variety of iron-refractory iron deficiency anemia as a result of two TMPRSS6 mutations PMID: 28460265
    3. Isolated heterozygous mutations of TMPRSS6 are unlikely to cause IRIDA, but when combined with a mutation in ALK2, the heterozygosity for the inactive MT2(I212T) may leave enough membrane hemojuvelin to allow persistent hepcidin activation. PMID: 28476747
    4. These findings suggest that the expression of matriptase-2 may be both a prognostic marker and a potential therapeutic target for this cancer. PMID: 26862950
    5. In examining iron variant associations with glucose homeostasis, an iron-raising variant of TMPRSS6 was associated with lower HbA1c levels (P = 8.66 x 10-10). PMID: 28334935
    6. Studies in colonic T84 cell monolayers revealed that barrier disruption by the colitis-associated Th2-type cytokines, IL-4 and IL-13, down-regulates matriptase as well as prostasin through phosphorylation of the transcriptional regulator STAT6 PMID: 28490634
    7. TMPRSS6 gene sequencing in 20 cases with IRIDA phenotype revealed 9 potentially deleterious intronic and two benign exonic variations in 12/20 cases (60%). PMID: 28169443
    8. Study suggests that deregulated pericellular matriptase activity in OSCC may transactivate PAR-2 on fibroblasts in the surrounding tissue and thus promote their recruitment to the perimeter of the tumor, contributing to a microenvironement that favors tumor growth of oral squamous cell carcinoma. PMID: 27615543
    9. All cases were either homozygous or compound heterozygous for missense or frameshift mutations in the TMPRSS6 gene, 2 of the mutations being novel (Cys410Ser and Leu689Pro) PMID: 27120435
    10. TMPRSS6 expression is significantly downregulated in human masticatory mucosa during wound healing PMID: 28005267
    11. Matriptase-2 deficiency causes iron deficiency anemia during the early postnatal development, but not during fetal development in humans. PMID: 26802052
    12. Iron refractory iron deficiency anemia is caused by mutations of TMPRSS6 which encodes matriptase-2, a serine protease expressed on cell membranes of hepatocytes which is involved in the hepcidin regulatory pathways by processing hemojuvelin protein. PMID: 26596411
    13. Combination of Tmprss6- ASO and the iron chelator deferiprone improves erythropoiesis and reduces iron overload in a mouse model of beta-thalassemia intermedia. PMID: 26405152
    14. Data show that p.V736A TMPRSS6 variant (rs855791) influences the susceptibility to hepatic iron accumulation in NTDT patients, and the risk allele is 736(A). PMID: 26385264
    15. A novel splicing mutation of TMPRSS6 exon 9 (c.1113G>A) was found in an iron-refractory iron deficiency anemia patient and his father. PMID: 25873000
    16. N-glycan branching regulates HAI-2 through different subcellular distribution and subsequently access to different target proteases PMID: 26171609
    17. genetic association studies in a population of black women in South Africa: Data suggest that SNPs in TMPRSS6 (rs228918; rs228921) are associated with iron status/iron-deficiency anemia in the population studied. PMID: 25809685
    18. We confirm that TMPRSS6 mutations are spread along the gene and that mechanistically they fully or partially abrogate hepcidin inhibition. PMID: 25156943
    19. Certain domains of matriptase-2 are important for trafficking to the cell surface and are required for cleavage of hemojuvelin. PMID: 25588876
    20. TMPRSS6 polymorphisms could play a role in iron homeostasis and the response to oral iron supplementation. PMID: 25557470
    21. genetic variation in TMPRSS6 is higher in celiac disease patients than in controls. PMID: 25567183
    22. TMPRSS6 inhibition via decreased STAT5 phosphorylation may be an additional mechanism by which inflammation stimulates hepcidin expression to regulate iron homeostasis and immunity. PMID: 24376517
    23. report six patients from three unrelated families with mutations in the TMPRSS6 gene, with three of the four identified mutations being novel PMID: 24382527
    24. Our study suggests homozygosity for TMPRSS6 rs855791 C genotype has a protective role against IDA in women at reproductive age, especially in those with menorrhagia. PMID: 24782651
    25. these data provide new insights into the cell surface expression, zymogen activation, and ectodomain shedding of matriptase-2. PMID: 24867957
    26. Correspondence You have free access to this content A novel tri-allelic mutation of TMPRSS6 in iron-refractory iron deficiency anaemia with response to glucocorticoid. PMID: 24661031
    27. In a study of 545 Rwandan pre-school children, 34.4% had anemia (17.6% Iron Deficiency Anemia). The TMPRSS6 736(V) allele, known to reduce iron status and Hb levels, was no more common than other known causes of anemia. PMID: 24175968
    28. Investigated and foung SNPs HFE rs1800562 and TMPRSS6 rs855791 are the main determinants of HFE and TMPRSS6 related variation in serum iron, ferritin, transferrin saturation, and total iron binding capacity. PMID: 23794717
    29. The association of TMRRSS6 variants with breast cancer risk and survival. PMID: 23649491
    30. Matriptase-2 could have a potential role in prostate and breast tumour suppression through its anti-angiogenic properties. PMID: 23238872
    31. A736V TMPRSS6 genotype influences hepcidin levels, erythropoiesis, and anemia management in CHD patients. PMID: 23433094
    32. data demonstrate that TMPRSS6 variations are very frequently associated with iron deficiency anaemia in patients suffering from polyendocrine autoimmune syndrome type III PMID: 23293981
    33. The p.A736V TMPRSS6 polymorphism is likely a modifier of Hereditary hemochromatosis (HH) expression. PMID: 22885719
    34. The p.Ala736Val TMPRSS6 variant influences secondary hepatic iron accumulation in patients with nonalcoholic fatty liver disease (NAFLD). PMID: 23144979
    35. matriptase-2 protects against the development and progression of prostate cancer by regulating the motility and invasive capabilities of prostate cancer cells PMID: 22858929
    36. Single nucleotide polymorphisms in TMPRSS6 gene is associated with iron overload. PMID: 22761678
    37. TMPRSS6 missense mutant proteins are targeted to the plasma membrane. PMID: 22581667
    38. 2 new TMPRSS6 variants associated, in the heterozygous form, with iron-refractory iron-deficiency anaemia (IRDA) in 2 unrelated families; data suggest although heterozygous TMPRSS6 mutations may not be able to induce a clear IRIDA phenotype, some may increase susceptibility to iron deficiency PMID: 22765023
    39. sequenced exons and exon-intron boundaries of SLC11A2 and TMPRSS6 in all 6 family members with iron-refractory iron deficiency anaemia; cannot exclude or confirm a gene-gene interaction between SLC11A2 and TMPRSS6; gene sequencing did not reveal causative rare mutations PMID: 22509377
    40. action of HIF-1alpha on TMPRSS6 promoter activity PMID: 22628316
    41. TF, TFR2 and TMPRSS6 polymorphisms are significantly associated with decreased iron status, but only variants in TMPRSS6 are genetic risk factors for iron deficiency and iron-deficiency anemia. PMID: 22323359
    42. We observed no other significant relationship of TMPRSS6 K253E, A736V, or Y739Y with iron, erythrocyte, or pica phenotypes. PMID: 22265928
    43. TMPRSS6 variants were significantly associated with plasma ferritin, hemoglobin, risk of iron overload, and type 2 diabetes in Chinese Hans. PMID: 22301935
    44. A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia PMID: 21618415
    45. HFE rs1800562 C282Y variant exerts a direct pleiotropic effect on the iron parameters, in part independent of hepcidin. PMID: 21785125
    46. the importance of TMPRSS6 trafficking at the plasma membrane in the regulation of hepcidin expression, an event that is essential for iron homeostasis. PMID: 21724843
    47. Modulation of TMPRSS6 expression could serve as a negative feedback inhibitor to avoid excessive hepcidin increases by iron to help maintain tight homeostatic balance of systemic iron levels. PMID: 21622652
    48. Regulation of type II transmembrane serine proteinase TMPRSS6 by hypoxia-inducible factors: new link between hypoxia signaling and iron homeostasis PMID: 20966077
    49. Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family PMID: 20964721
    50. in 16 subjects with iron-refractory iron deficiency anaemia (IRIDA), identified 27 polymorphisms in TMPRSS6 gene; 8 snps and 4 haplotypes were associated with iron-refractory anaemia PMID: 20738301

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  • 相关疾病：
    Iron-refractory iron deficiency anemia (IRIDA)
  • 亚细胞定位：
    Cell membrane; Single-pass type II membrane protein.
  • 蛋白家族：
    Peptidase S1 family
  • 数据库链接：

    HGNC: 16517

    OMIM: 206200

    KEGG: hsa:164656

    STRING: 9606.ENSP00000334962

    UniGene: Hs.370885