1fgd: Difference between revisions
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{{STRUCTURE_1fgd| PDB=1fgd | SCENE= }} | {{STRUCTURE_1fgd| PDB=1fgd | SCENE= }} | ||
===EPIDERMAL GROWTH FACTOR (EGF) SUBDOMAIN OF HUMAN THROMBOMODULIN (NMR, 11 STRUCTURES)=== | |||
{{ABSTRACT_PUBMED_8745396}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/TRBM_HUMAN TRBM_HUMAN]] Defects in THBD are the cause of thrombophilia due to thrombomodulin defect (THPH12) [MIM:[http://omim.org/entry/614486 614486]]. A hemostatic disorder characterized by a tendency to thrombosis.<ref>PMID:7811989</ref><ref>PMID:9198186</ref><ref>PMID:12139752</ref> Defects in THBD are a cause of susceptibility to hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:[http://omim.org/entry/612926 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. Note=Susceptibility to the development of atypical hemolytic uremic syndrome can be conferred by mutations in various components of or regulatory factors in the complement cascade system. Other genes may play a role in modifying the phenotype.<ref>PMID:19625716</ref><ref>PMID:20513133</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/TRBM_HUMAN TRBM_HUMAN]] Thrombomodulin is a specific endothelial cell receptor that forms a 1:1 stoichiometric complex with thrombin. This complex is responsible for the conversion of protein C to the activated protein C (protein Ca). Once evolved, protein Ca scissions the activated cofactors of the coagulation mechanism, factor Va and factor VIIIa, and thereby reduces the amount of thrombin generated. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:008745396</ref><references group="xtra"/> | <ref group="xtra">PMID:008745396</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Hrabal, R.]] | [[Category: Hrabal, R.]] | ||
