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ADAMTS17

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

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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

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Mutations in ADAMTS17 are associated with Weill-Marchesani syndrome.[5]

References

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  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000058145Ensembl, 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.
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Further reading

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