ADAMTS17

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

n/a

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
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ADAM metallopeptidase with thrombospondin type 1 motif, 17 is a protein that in humans is encoded by the ADAMTS17 gene.[1]

Function

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the protein encoded by ADAMTS19, another family member. The function of this protein has not been determined. [provided by RefSeq, Jul 2008].

Clinical significance

Mutations in ADAMTS17 are associated with Weill-Marchesani syndrome .[2]

References

  1. "Entrez Gene: ADAM metallopeptidase with thrombospondin type 1 motif, 17".
  2. Shah MH, Bhat V, Shetty JS, Kumar A (2014). "Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome". Molecular Vision. 20: 790–6. PMC 4057248. PMID 24940034.

External links

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.