ADAMTS17

ADAM metallopeptidase with thrombospondin type 1 motif, 17 is a protein that in humans is encoded by the ADAMTS17 gene.[5]

ADAMTS17
Identifiers
AliasesADAMTS17, ADAM metallopeptidase with thrombospondin type 1 motif 17, WMS4
External IDsOMIM: 607511 MGI: 3588195 HomoloGene: 16373 GeneCards: ADAMTS17
Gene location (Human)
Chr.Chromosome 15 (human)[1]
Band15q26.3Start99,971,437 bp[1]
End100,342,005 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

170691

233332

Ensembl

ENSG00000140470

ENSMUSG00000058145

UniProt

Q8TE56

n/a

RefSeq (mRNA)

NM_139057

NM_001033877

RefSeq (protein)

NP_620688

n/a

Location (UCSC)Chr 15: 99.97 – 100.34 MbChr 7: 66.84 – 67.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000140470 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000058145 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: ADAM metallopeptidase with thrombospondin type 1 motif, 17".
  6. 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.

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