ADAMTS8

Chr 11

ADAM metallopeptidase with thrombospondin type 1 motif 8

Also known as: ADAM-TS8, METH2

NCBI Gene: 11095 ENSG00000134917 UniProt: Q9UP79 OMIM: 605175

The protein functions as a metalloproteinase with anti-angiogenic properties, disrupting blood vessel formation. Mutations in this gene have been associated with cancer predisposition, particularly lung neoplasms, following an autosomal dominant inheritance pattern. The gene shows minimal constraint against loss-of-function variants, suggesting some tolerance to protein disruption.

OMIM ResearchSummary from RefSeq, UniProt

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. This enzyme contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. Reduced expression of this gene has been observed in multiple human cancers and this gene has been proposed as a potential tumor suppressor. [provided by RefSeq, Feb 2016]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.91

LOEUF

Multiple*

Mechanism· predicted