ADAMTS17
Identifiers
AliasesADAMTS17, ADAM metallopeptidase with thrombospondin type 1 motif 17, WMS4
External IDsOMIM: 607511 MGI: 3588195 HomoloGene: 16373 GeneCards: ADAMTS17
Orthologs
SpeciesHumanMouse
Entrez

170691

233332

Ensembl

n/a

ENSMUSG00000058145

UniProt

Q8TE56

n/a

RefSeq (mRNA)

NM_139057

NM_001033877

RefSeq (protein)

NP_620688

n/a

Location (UCSC)n/aChr 7: 66.49 – 66.8 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

ADAM metallopeptidase with thrombospondin type 1 motif, 17 is a protein that in humans is encoded by the ADAMTS17 gene.[4]

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.[5]

References

  1. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000058145 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Entrez Gene: ADAM metallopeptidase with thrombospondin type 1 motif, 17".
  5. 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: 790–796. PMC 4057248. PMID 24940034.

Further reading

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

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.