ADAMTS17
This article may be too technical for most readers to understand. (February 2015) |
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). ADAM metallopeptidase with thrombospondin type 1 motif, 17 is a protein that in humans is encoded by the ADAMTS17 gene.[1]
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
[edit | edit source]Mutations in ADAMTS17 are associated with Weill-Marchesani syndrome.[2]
References
[edit | edit source]External links
[edit | edit source]- Human ADAMTS17 genome location and ADAMTS17 gene details page in the UCSC Genome Browser.
Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
