功能： catalytic activity:Cleaves the vWF at the 842-Tyr-|-Met-843 in the A2 domain of the vWF subunit.,cofactor:Binds 1 zinc ion per subunit.,cofactor:Binds 4 calcium ions .,disease:Defects in ADAMTS13 are the cause of congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]; also known as Upshaw-Schulman syndrome (USS). Congenital TTP is a life-threatening systemic disorder due to constitutional deficiency of vWF-cleaving protease. Typical features are hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and nonfocal neurologic findings, decreased renal function and fever. Congenital TTP is characterized by neonatal onset, response to fresh plasma infusion and frequent relapses. Inheritance pattern is autosomal recessive. In sporadic cases, TTP is associated with deficiency of vWF-cleaving protease due to the presence of inhibiting autoantibodies (acquired TTP or autoimmune TTP). Acquired TTP is characterized by adult-onset. TTP shares overlapping clinical features with hemolytic-uremic syndrome (HUS) [MIM:235400], a disease characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes.,domain:The pro-domain is not required for folding or secretion and does not perform the common function of maintening enzyme latency.,domain:The spacer domain is necessary to recognize and cleave vWF. The C-terminal TSP type-1 and CUB domains may modulate this interaction.,enzyme regulation:Zinc and calcium ions cooperatively modulate enzyme activity. The cleavage of the pro-domain is not required for protease activity.,function:Cleaves the vWF multimers in plasma into smaller forms.,online information:ADAMTS13 entry,polymorphism:Genetic variations in ADAMTS13 coding region influence plasmatic ADAMTS13 activity levels. Dependent on the sequence context, the same polymorphisms might be either positive or negative modifiers of gene expression, thereby altering the phenotype of ADAMTS13 deficiency.,PTM:May contain a C-mannosylation site and O-fucosylation sites in the TSP type-1 domains.,PTM:The precursor is processed by a furin endopeptidase which cleaves off the pro-domain.,similarity:Contains 1 disintegrin domain.,similarity:Contains 1 peptidase M12B domain.,similarity:Contains 2 CUB domains.,similarity:Contains 8 TSP type-1 domains.,tissue specificity:Plasma. Expressed primarily in liver.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Secreted . Secretion enhanced by O-fucosylation of TSP type-1 repeats.
组织表达： Plasma. Expressed primarily in liver.
科研货号： PLA006272
ATS13 Polyclonal Antibody
Catalog NoPLA006272
Product information
基因名称： ADAMTS13 C9orf8 UNQ6102/PRO20085
蛋白名称： A disintegrin and metalloproteinase with thrombospondin motifs 13 (ADAM-TS 13) (ADAM-TS13) (ADAMTS-13) (EC 3.4.24.87) (von Willebrand factor-cleaving protease) (vWF-CP) (vWF-cleaving protease)
功能： catalytic activity:Cleaves the vWF at the 842-Tyr-|-Met-843 in the A2 domain of the vWF subunit.,cofactor:Binds 1 zinc ion per subunit.,cofactor:Binds 4 calcium ions .,disease:Defects in ADAMTS13 are the cause of congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]; also known as Upshaw-Schulman syndrome (USS). Congenital TTP is a life-threatening systemic disorder due to constitutional deficiency of vWF-cleaving protease. Typical features are hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and nonfocal neurologic findings, decreased renal function and fever. Congenital TTP is characterized by neonatal onset, response to fresh plasma infusion and frequent relapses. Inheritance pattern is autosomal recessive. In sporadic cases, TTP is associated with deficiency of vWF-cleaving protease due to the presence of inhibiting autoantibodies (acquired TTP or autoimmune TTP). Acquired TTP is characterized by adult-onset. TTP shares overlapping clinical features with hemolytic-uremic syndrome (HUS) [MIM:235400], a disease characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes.,domain:The pro-domain is not required for folding or secretion and does not perform the common function of maintening enzyme latency.,domain:The spacer domain is necessary to recognize and cleave vWF. The C-terminal TSP type-1 and CUB domains may modulate this interaction.,enzyme regulation:Zinc and calcium ions cooperatively modulate enzyme activity. The cleavage of the pro-domain is not required for protease activity.,function:Cleaves the vWF multimers in plasma into smaller forms.,online information:ADAMTS13 entry,polymorphism:Genetic variations in ADAMTS13 coding region influence plasmatic ADAMTS13 activity levels. Dependent on the sequence context, the same polymorphisms might be either positive or negative modifiers of gene expression, thereby altering the phenotype of ADAMTS13 deficiency.,PTM:May contain a C-mannosylation site and O-fucosylation sites in the TSP type-1 domains.,PTM:The precursor is processed by a furin endopeptidase which cleaves off the pro-domain.,similarity:Contains 1 disintegrin domain.,similarity:Contains 1 peptidase M12B domain.,similarity:Contains 2 CUB domains.,similarity:Contains 8 TSP type-1 domains.,tissue specificity:Plasma. Expressed primarily in liver.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Secreted . Secretion enhanced by O-fucosylation of TSP type-1 repeats.
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