Aliases for MATN3 Gene
External Ids for MATN3 Gene
Previous GeneCards Identifiers for MATN3 Gene
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]
GeneCards Summary for MATN3 Gene
MATN3 (Matrilin 3) is a Protein Coding gene. Diseases associated with MATN3 include Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type and Epiphyseal Dysplasia, Multiple, 5. Among its related pathways are Degradation of the extracellular matrix and ECM proteoglycans. Gene Ontology (GO) annotations related to this gene include calcium ion binding and extracellular matrix structural constituent. An important paralog of this gene is COL6A6.
UniProtKB/Swiss-Prot Summary for MATN3 Gene
Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks.