Heparin Cofactor II ist ein Gen, das durch das Symbol SERPIND1 kodiert wird. Im Allgemeinen auch bezeichnet als: Heparin cofactor 2; HC-II; Protease inhibitor leuserpin-2; HLS2; Serpin D1; SERPIND1; HCF2. Heparin Cofactor II hat eine Masse von 57.07kDa, eine Aminosäurelänge von 499, und ist an Thrombophilia due to heparin cofactor 2 deficiency beteiligt.
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Gen- und Proteininformationen
UniProt Zusammenfassung
Thrombin inhibitor activated by the glycosaminoglycans, heparin or dermatan sulfate. In the presence of the latter, HC-II becomes the predominant thrombin inhibitor in place of antithrombin III (AT-III). Also inhibits chymotrypsin, but in a glycosaminoglycan-independent manner.
Entrez Zusammenfassung
This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with heparin cofactor II deficiency.
Gewebespezifität
Expressed predominantly in liver. Also present in plasma.
Rolle bei Krankheiten
Thrombophilia due to heparin cofactor 2 deficiency: A hemostatic disorder characterized by a tendency to recurrent thrombosis.
Sequenzähnlichkeiten
Belongs to the serpin family.
Posttranslationale Modifikation
Phosphorylated by FAM20C in the extracellular medium.
