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小鼠 Thrombomodulin / THBD  基因

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Thrombomodulin / THBD
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Thrombomodulin / THBD 相关研究领域

Thrombomodulin / THBD 相關信號通路

    Thrombomodulin / THBD 相關蛋白、抗體、cDNA基因、ELISA試劑盒

    Thrombomodulin / THBD 相關蛋白、抗體、cDNA基因、ELISA試劑盒

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    Thrombomodulin / THBD 概述&蛋白信息

    Thrombomodulin / THBD 研究背景

    基因概述: The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in THBD are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]
    General information above from NCBI
    亞細胞定位: Membrane; Single-pass type I membrane protein.
    組織特異性: Endothelial cells are unique in synthesizing thrombomodulin.
    翻譯後修飾: N-glycosylated. {ECO:0000269|PubMed:8216207}.; The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. {ECO:0000269|PubMed:8390446}.
    相關疾病 : DISEASE: Thrombophilia due to thrombomodulin defect (THPH12) [MIM:614486]: A hemostatic disorder characterized by a tendency to thrombosis. {ECO:0000269|PubMed:12139752, ECO:0000269|PubMed:7811989, ECO:0000269|PubMed:9198186}. Note=The disease may be caused by mutations affecting the gene represented in this entry. The role of thrombomodulin in thrombosis is controversial. It is likely that genetic or environmental risk factors in addition to THBD variation are involved in the pathogenesis of venous thrombosis.; DISEASE: Hemolytic uremic syndrome atypical 6 (AHUS6) [MIM:612926]: An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. {ECO:0000269|PubMed:19625716, ECO:0000269|PubMed:20513133}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype.
    相似的序列: Contains 1 C-type lectin domain. {ECO:0000255|PROSITE-ProRule:PRU00040}.; Contains 6 EGF-like domains. {ECO:0000255|PROSITE-ProRule:PRU00076}.
    General information above from UniProt

    Thrombomodulin, also known as THBD(CD141), is an integral membrane protein which reduces blood coagulation by converting thrombin to an anticoagulant enzyme from a procoagulant enzyme. Thrombomodulin is expressed on the surface of endothelial cells and serves as a cofactor for thrombin. It is also expressed on human mesothelial cell, monocyte and a dendritic cell subset. Thrombomodulin functions as a cofactor in the thrombin-induced activation of protein C in the anticoagulant pathway by forming a 1:1 stoichiometric complex with thrombin. Thrombomodulin also regulates C3b inactivation by factor I. Mutations in the thrombomodulin gene have also been reported to be associated with atypical hemolytic-uremic syndrome.

    Thrombomodulin / THBD 別稱

    TM,THRM,AHUS6,BDCA3,CD141,THPH12, [homo-sapiens]
    AHUS6,BDCA3,CD141,CD141 antigen,fetomodulin,THBD,THPH12,THRM,Thrombomodulin,TM, [human]
    AI385582,CD141,fetomodulin,RP23-70N3.2,snoRNA MBII-339,Thbd,Thrombomodulin,TM, [mouse]
    TM,CD141,AI385582, [mus-musculus]

    Thrombomodulin / THBD 相關文獻

  • Dzionek A, et al. (2002) Plasmacytoid dendritic cells: from specific surface markers to specific cellular functions. Hum Immunol. 63(12):1133-48.
  • Dzionek A, et al. (2000) BDCA-2, BDCA-3, and BDCA-4: three markers for distinct subsets of dendritic cells in human peripheral blood. J Immunol. 165(11):6037-46.
  • Wen DZ, et al. (1987) Human thrombomodulin: complete cDNA sequence and chromosome localization of the gene. Biochemistry. 26(14):4350-7.
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