gene 1,427 words KG: ADAMTS13
Contents

ADAMTS13 Gene

🧬 Gene Info
Gene SymbolADAMTS13
Full NameA Disintegrin And Metalloproteinase with Thrombospondin Motifs 13
Chromosome9q34.2
Protein TypeProtease
FunctionADAMTS13 is a zinc-dependent metalloprotease that specifically cleaves von Willebrand factor (VWF) multimers into smaller, less pro-thrombotic units.
Primary Expressionthe liver, particularly by hepatic stellate cells and endothelial cells [2]
UniProt IDhttps://www.uniprot.org/uniprot/Q76LX8 Q76LX8
Ensembl IDENSG00000162825
GeneCardsADAMTS13
Human Protein AtlasADAMTS13
LiverPrimary site of synthesis (hepatocytes and hepatic stellate cells)
BrainCerebral microvascular endothelial cells, astrocytes
KidneyGlomerular endothelial cells
PlasmaCirculating enzyme at concentrations of ~1 μg/mL
Recombinant ADAMTS13Being developed for congenital TTP; potential neuroprotective therapy
Associated Diseasesneurodegeneration
DatabasesGeneCardsNCBI GeneHPASTRING

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