ADAMTS13 est un gène codé par le symbole ADAMTS13. D'autres noms incluent: A disintegrin and metalloproteinase with thrombospondin motifs 13; ADAM-TS 13; von Willebrand factor-cleaving protease; vWF-CP; C9orf8. ADAMTS13 a une masse de 153.6kDa, une longueur d'acide aminé de 1427, et est impliqué dans Thrombotic thrombocytopenic purpura congenital.
Nous proposons 5 ADAMTS13 kits ELISA pour la détection qualitative ou quantitative de ADAMTS13 à partir d'échantillons Humain, Rat et Singe.
Informations sur les Gènes et les Protéines
Résumé UniProt
Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation.
Résumé Entrez
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.
Spécificité tissulaire
Plasma. Expressed primarily in liver.
Implication dans la maladie
Thrombotic thrombocytopenic purpura congenital: A hematologic disease characterized by hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and non-focal neurologic findings, decreased renal function and fever. recessive.
Modification post-traductionnelle
Glycosylated. O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS13. May also be C-glycosylated on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and also N-glycosylated. These other glycosylations can also facilitate secretion.
Localisation cellulaire
Secreted.
Secretion enhanced by O-fucosylation of TSP type-1 repeats.
