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 O-glycosylation of TSR domain-containing proteins and Diseases of glycosylation. GO annotations related to this gene include calcium ion binding and metalloendopeptidase activity. An important paralog of this gene is ADAMTS2.
UniProtKB/Swiss-Prot for ADAMTS13 Gene
Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation.