Entrez gene ID | | 4148 |
Official gene symbol | | MATN3 |
Full name | | matrilin 3 |
Aliases | | ,DIPOA,EDM5,HOA,OADIP,OS2, |
Gene 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] |
Location | | Chromosome: 2 Locus: 2p24-p23 |
Gene position | | 20212455 - 20191813 Map Viewer |
Gene orientation | | minus |
Gene size | | 20643 bp |
Gene sequence |
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OMIM ID | | 602109 |