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ADAMTS13 is 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.
Gene Name: | ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
Family/Subfamily: | Protease , Metallopeptidase M12B |
Synonyms: | ADAMTS13, ADAM-TS, ADAM-TS13, ADAMTS-13, ADAM-TS 13, C9orf8, TTP, VWF-CP, VWF-cleaving protease, VWFCP |
Target Sequences: | NM_139025 NP_620594.1 Q76LX8 |
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