ADAM-TS2 antibody, ADAMTS-2 antibody, ADAMTS-3 antibody, PCINP antibody, hPCPNI antibody, mKIAA4060 antibody, pNPI antibody, NPI antibody, PC I-NP antibody, PCI-NP antibody, PCPNI antibody, PNPI antibody, RGD1565950 antibody, a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 2 antibody, ADAM metallopeptidase with thrombospondin type 1 motif 2 antibody, ADAM metallopeptidase with thrombospondin type 1 motif, 2 antibody, Adamts2 antibody, ADAMTS2 antibody
Background
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 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 results in multiple transcript variants.