rs1460020361

This variant is located in the ADAMTS6 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About ADAMTS6

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. [provided by RefSeq, Mar 2016]

View all ADAMTS6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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