Gene:
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13
Gene ID:
196137
Symbol:
ADAMTS13
Species:
1000
Description:
This gene encodes a disintegrin and metalloproteinase with thrombospondin (ADAMTS) motifs-13, which is a member of the ADAMTS 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 at least 4 transcript variants encoding different isoforms.