anticorps ADAM-TS2, anticorps ADAMTS-2, anticorps ADAMTS-3, anticorps PCINP, anticorps hPCPNI, anticorps mKIAA4060, anticorps pNPI, anticorps NPI, anticorps PC I-NP, anticorps PCI-NP, anticorps PCPNI, anticorps PNPI, anticorps RGD1565950, anticorps a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 2, anticorps ADAM metallopeptidase with thrombospondin type 1 motif 2, anticorps ADAM metallopeptidase with thrombospondin type 1 motif, 2, anticorps Adamts2, anticorps ADAMTS2
Sujet
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.