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Gene : ADAMTS13 Homo sapiens

Name  ? ADAM metallopeptidase with thrombospondin type 1 motif 13 Cytological Location  9q34.2
Brief Description  ADAM metallopeptidase with thrombospondin type 1 motif 13
description  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]
  • synonyms:
  • VWFCP,
  • OTTHUMG00000020876,
  • MGC118899,
  • MGC118900,
  • ADAMTS13,
  • uc004cdv.6,
  • NM_139025,
  • HGNC:1366,
  • C9orf8,
  • a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13,
  • TTP,
  • vWF-CP,
  • vWF-CP,
  • FLJ42993,
  • AJ011374,
  • ADAMTS-13,
  • C9orf8,
  • DKFZp434C2322,
  • ADAM-TS13,
  • VWFCP
  • identifiers:
  • 11093,
  • ENSG00000160323,
  • ADAMTS13

Genome feature

Region: gene ? Length: 45065  
Location: 9:133414339-133459403 Cyto location: 9q34.2


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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

2011 SN Ps

4 Cross References

17 Data Sets

31 Homologues

0 Located Features

90 Rna Seq Results