Matrilin 4 (MATN4)

MATN4 encodes a member of von Willebrand factor A domain containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. The specific function of this gene product has not yet been determined. Three alternatively spliced variants have been described. The human matrilin-4 gene contains 10 exons and spans approximately 12 kb. Alternative splicing leads to 3 different transcripts encoding protein isoforms that all contain a putative signal peptide, 2 vWFA-like domains, and the coiled-coil region. The isoforms differ in that they include either 1, 2, or 3 EGF-like domains. There are 4 EGF-like domains in mouse matrilin-4, but the first EGF-like domain in the human protein is not expressed.