External Ids 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 multiple epiphyseal dysplasia, dominant and multiple epiphyseal dysplasia. Among its related pathways are Degradation of the extracellular matrix and ECM proteoglycans. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is MATN1.
UniProtKB/Swiss-Prot for MATN3 Gene
Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks