Aliases for ADAMTS13 Gene
- ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13 2 3 5
- A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 13 2 3
- A Disintegrin And Metalloproteinase With Thrombospondin Motifs 13 3 4
- Von Willebrand Factor-Cleaving Protease 3 4
- VWF-Cleaving Protease 3 4
- ADAM-TS13 3 4
- ADAMTS-13 3 4
External Ids for ADAMTS13 Gene
Previous HGNC Symbols for ADAMTS13 Gene
Previous GeneCards Identifiers for ADAMTS13 Gene
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]
GeneCards Summary for ADAMTS13 Gene
ADAMTS13 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13) is a Protein Coding gene. Diseases associated with ADAMTS13 include Thrombotic Thrombocytopenic Purpura, Congenital and Thrombotic Thrombocytopenic Purpura. Among its related pathways are Metabolism of proteins and O-glycosylation of TSR domain-containing proteins. Gene Ontology (GO) annotations related to this gene include calcium ion binding and metalloendopeptidase activity. An important paralog of this gene is ADAMTS9.
UniProtKB/Swiss-Prot Summary for ADAMTS13 Gene
Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation.