ADAMTS-13 (ADAMTS13) Antibody – Mouse Monoclonal

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]

ADAMTS13: Cleaves the vWF multimers in plasma into smaller forms. Defects in ADAMTS13 are the cause of thrombotic thrombocytopenic purpura congenital (TTP); also known as Upshaw-Schulman syndrome (USS). A hematologic disease characterized by hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and non-focal neurologic findings, decreased renal function and fever. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Extracellular matrix; Secreted, signal peptide; Protease; EC 3.4.24.87; Calcium-binding; Motility/polarity/chemotaxis; Secreted

Chromosomal Location of Human Ortholog: 9q34

Cellular Component: proteinaceous extracellular matrix; extracellular space; cell surface; endoplasmic reticulum lumen

Molecular Function: integrin binding; protein binding; zinc ion binding; metallopeptidase activity; metalloendopeptidase activity; calcium ion binding

Biological Process: integrin-mediated signaling pathway; platelet activation; protein amino acid O-linked glycosylation; cellular protein metabolic process; glycoprotein metabolic process; cell-matrix adhesion; response to toxin; peptide catabolic process; protein processing; post-translational protein modification; proteolysis

Disease: Thrombotic Thrombocytopenic Purpura, Congenital