rs112153103

This variant is located in the ADAMTS12 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About ADAMTS12

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-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]

View all ADAMTS12 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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