ADAMTS17

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
ADAMTS17
Identifiers
AliasesADAMTS17, ADAM metallopeptidase with thrombospondin type 1 motif 17, WMS4
External IDsMGI: 3588195 HomoloGene: 16373 GeneCards: ADAMTS17
Gene location (Human)
Chromosome 15 (human)
Chr.Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for ADAMTS17
Genomic location for ADAMTS17
Band15q26.3Start99,971,589 bp[1]
End100,342,005 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

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

Function[edit]

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[edit]

Mutations in ADAMTS17 are associated with Weill-Marchesani syndrome .[6]

References[edit]

External links[edit]

Further reading[edit]

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