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ADAMTS6

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ADAMTS6
Identifiers
AliasesADAMTS6, ADAM-TS 6, ADAM-TS6, ADAMTS-6, ADAM metallopeptidase with thrombospondin type 1 motif 6
External IDsOMIM: 605008; MGI: 1347348; HomoloGene: 82573; GeneCards: ADAMTS6; OMA:ADAMTS6 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_197941
NM_014273

NM_001081020
NM_175496

RefSeq (protein)

NP_922932

NP_001074489

Location (UCSC)Chr 5: 65.15 – 65.48 MbChr 13: 104.42 – 104.63 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

ADAM metallopeptidase with thrombospondin type 1 motif 6 is a protein that in humans is encoded by the ADAMTS6 gene. [5]

Function

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family 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 encoded preproprotein is proteolytically processed to generate the mature enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha.

Mutation in ADAMTS6 causes predisposition to hernias.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000049192Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000046169Ensembl, 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 6". Retrieved 2017-09-01.
  6. ^ Jorgenson, E.; Makki, N.; Shen, L.; Chen, D. C.; Tian, C.; Eckalbar, W. L.; Hinds, D.; Ahituv, N.; Avins, A. (2015). "A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia - PubMed". Nature Communications. 6: 10130. doi:10.1038/ncomms10130. PMC 4703831. PMID 26686553.

Further reading


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