MATN3, Official Symbol MATN3provided by HGNC Official Full Name matrilin 3provided by HGNC Primary source HGNC:HGNC:6909 See related Ensembl:ENSG00000132031 MIM:602109; AllianceGenome:HGNC:6909 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HOA; OS2; EDM5; DIPOA; OADIP; SEMDBCD 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] Expression Biased expression in lung (RPKM 8.3), placenta (RPKM 4.2) and 9 other tissues See more Orthologs mouse all