Matrilin 3 Antibody

Matrilin-3 is a protein that in humans is encoded by the MATN3 gene. This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is though to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. By fluorescence in situ hybridization, Belluoccio et al. (1998) mapped the human gene to chromosome 2p24-p23. Wagener et al. (2000) mapped the mouse gene to the proximal end of chromosome 12, linked to the genes Synd1, Apob, Dtnb, and Kif3c. The human homologs of all 5 of these genes map to 2p23, indicating considerable homology of synteny. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia.