基因名:
ADAMTS13
产品别名:
ADAM-TS13; ADAMTS-13; C9orf8; VWFCP; vWF-CP; ADAMTS13; ADAM metallopeptidase with thrombospondin type 1 motif 13; ADAM metallopeptidase with thrombospondin type 1 motif 13; A disintegrin and metalloproteinase with thrombospondin motifs 13; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13; vWF-cleaving protease; von Willebrand factor-cleaving protease; 整合素样金属蛋白酶与凝血酶13型; 血管性血友病因子裂解蛋白酶(vWFCP);
背景信息:
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene is the von Willebrand Factor (vWF)-cleaving protease, which is responsible for cleaving at the site of Tyr842-Met843 of the vWF molecule. A deficiency of this enzyme is associated with thrombotic thrombocytopenic purpura. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2008].