Matrilin 1 (MATN1)

MATN1 is a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias.Three microsatellite polymorphisms in the gene, respectively consisting of 103 bp, 101 bp and 99 bp, have been linked to idiopathic scoliosis.The genomic probe was also used to screen a human retina cDNA library. The protein sequence predicted by the cDNA clones has 496 amino acids, including a 22-residue signal peptide. The structure of the CMP gene (also symbolized CRTM) and polypeptide were strikingly similar in the chicken and in the human. The human gene spans 12 kb and has 8 exons and 7 introns.