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GeneQ14873945· pop 11· linked from 162 articles

ADAMTS13

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Also known as ADAM-TS13, ADAMTS-13, C9orf8, VWFCP, vWF-CP, ADAM metallopeptidase with thrombospondin type 1 motif 13

ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13)—also known as von Willebrand factor-cleaving protease (VWFCP)—is a zinc-containing metalloprotease enzyme that cleaves von Willebrand factor (vWf), a large protein involved in blood clotting. It is secreted into the blood and degrades large vWf multimers, decreasing their activity, hence ADAMTS13 acts to reduce thrombus formation.

Gene data

ADAMTS13
Name
ADAM metallopeptidase with thrombospondin type 1 motif 13
Type
protein-coding
Position
133,414,358–133,459,402 (+)
Aliases
ADAM-TS13, ADAMTS-13, C9orf8, VWFCP, vWF-CP
Ensembl
ENSG00000160323
RefSeq RNA
NM_139025.5, NM_139026.6, NM_139027.6, NM_139028.2, NR_024514.3
RefSeq protein
NP_620594.1, NP_620595.1, NP_620596.2, XP_011516478.1, XP_011516480.1

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].

Gene Ontology

Pathways

HemostasisDiseaseDiseases of glycosylationDiseases associated with O-glycosylation of proteinsMetabolism of proteinsDefective B3GALTL causes PpSO-linked glycosylationO-glycosylation of TSR domain-containing proteinsDiseases of metabolismPost-translational protein modification

via MyGene.info

Gene · Ensembl

ADAM metallopeptidase with thrombospondin type 1 motif 13

Symbol
ADAMTS13
Biotype
Protein coding
Organism
Homo sapiens
Location
9:133,414,358-133,459,402
Strand
Forward (+)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

~3 min read

Encyclopedic overview

8 sections
Contents
  • Genetics
  • Discovery
  • Proteomics
  • Role in disease
  • See also
  • References
  • Further reading
  • External links

ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13)—also known as von Willebrand factor-cleaving protease (VWFCP)—is a zinc-containing metalloprotease enzyme that cleaves von Willebrand factor (vWf), a large protein involved in blood clotting. It is secreted into the blood and degrades large vWf multimers, decreasing their activity, hence ADAMTS13 acts to reduce thrombus formation.

==Genetics== The ADAMTS13 gene maps to the ninth chromosome (9q34).

Excerpted from Wikipedia’s “ADAMTS13” article, available under the CC BY-SA 4.0 licence.

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