Gene Symbol | ADAMTS13 |
Entrez Gene ID | 11093 |
Full Name | ADAM metallopeptidase with thrombospondin type 1 motif 13 |
Synonyms | ADAM-TS13,ADAMTS-13,C9orf8,VWFCP,vWF-CP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. |
Disorder MIM: | |
Disorder Html: | Thrombotic thrombocytopenic purpura, familial, 274150 (3) |