NCBI and Uniprot Product Information
NCBI Description
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 this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]
Uniprot Description
thrombomodulin: 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. Defects in THBD are the cause of thrombophilia due to thrombomodulin defect (THPH12). A hemostatic disorder characterized by a tendency to thrombosis. Defects in THBD are a cause of susceptibility to hemolytic uremic syndrome atypical type 6 (AHUS6). 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. 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.
Protein type: Membrane protein, integral
Chromosomal Location of Human Ortholog: 20p11.2
Cellular Component: extracellular space; cell surface; integral to plasma membrane; plasma membrane
Molecular Function: protein binding; transmembrane receptor activity; calcium ion binding; receptor activity
Biological Process: negative regulation of fibrinolysis; response to cAMP; negative regulation of blood coagulation; response to lipopolysaccharide; female pregnancy; blood coagulation; signal transduction; leukocyte migration; response to X-ray
Disease: Thrombophilia Due To Thrombomodulin Defect; Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Research Articles on TM
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Product Notes
The Mouse TM thbd (Catalog #AAA722610) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA722610 ELISA Kit recognizes Mouse TM. It is sometimes possible for the material contained within the vial of "Thrombomodulin, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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