Entrez gene ID | | 11093 |
Official gene symbol | | ADAMTS13 |
Full name | | ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
Aliases | | ,C9orf8,DKFZp434C2322,FLJ42993,MGC118899,MGC118900,TTP,VWFCP,vWF-CP, |
Gene summary | | 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] |
Location | | Chromosome: 9 Locus: 9q34 |
Gene position | | 136279459 - 136324508 Map Viewer |
Gene orientation | | plus |
Gene size | | 45050 bp |
Gene sequence |
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OMIM ID | | 604134 |
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