Entrez Summary: This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. 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. [provided by RefSeq, Jul 2008].
UniProt Summary: Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks.
Pfam DomainsGO Terms
Pfam Domains
VWA
Matrilin ccoil
GO Terms
chondrocyte morphogenesis involved in endochondral bone morphogenesis