Gene:
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2
Gene ID:
206500
Symbol:
ADAMTS2
Species:
1000
Description:
This gene encodes a disintegrin and metalloproteinase with thrombospondin motifs-2 (ADAMTS2), which is a member of the ADAMTS 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 enzyme encoded by this gene excises the N-propeptide of type I, type II and type V procollagens. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing of the gene generates 2 transcript variants. The short transcript encodes a protein, which has no significant procollagen N-peptidase activity.