Aliases for ADAMTS13 Gene
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, Familial and Familial Thrombotic Thrombocytopenia Purpura. Among its related pathways are Diseases associated with O-glycosylation of proteins and Transport to the Golgi and subsequent modification. GO annotations related to this gene include calcium ion binding and metalloendopeptidase activity. An important paralog of this gene is ADAMTSL1.
UniProtKB/Swiss-Prot for ADAMTS13 Gene
Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation.