Matrilin-1 Explained

Matrilin 1, cartilage matrix protein, also known as MATN1, is a matrilin protein which in humans is encoded by the MATN1 gene.^{[1] [2] [3]}

Function

This gene encodes 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.^[4]

Further reading

• Jenkins RN, Osborne-Lawrence SL, Sinclair AK, etal . Structure and chromosomal location of the human gene encoding cartilage matrix protein . J. Biol. Chem. . 265 . 32 . 19624–31 . 1991 . 10.1016/S0021-9258(17)45417-2 . 2246248 . free .
• Loughlin J, Irven C, Sykes B . Exclusion of the cartilage link protein and the cartilage matrix protein genes as the mutant loci in several heritable chondrodysplasias . Hum. Genet. . 94 . 6 . 698–700 . 1995 . 7989046 . 10.1007/bf00206966. 30333805 .
• Deák F, Piecha D, Bachrati C, etal . Primary structure and expression of matrilin-2, the closest relative of cartilage matrix protein within the von Willebrand factor type A-like module superfamily . J. Biol. Chem. . 272 . 14 . 9268–74 . 1997 . 9083061 . 10.1074/jbc.272.14.9268 . free .
• Makihira S, Yan W, Ohno S, etal . Enhancement of cell adhesion and spreading by a cartilage-specific noncollagenous protein, cartilage matrix protein (CMP/Matrilin-1), via integrin alpha1beta1 . J. Biol. Chem. . 274 . 16 . 11417–23 . 1999 . 10196235 . 10.1074/jbc.274.16.11417 . free .
• Hansson AS, Lu S, Holmdahl R . Extra-articular cartilage affected in collagen-induced, but not pristane-induced, arthritis models . Clin. Exp. Immunol. . 127 . 1 . 37–42 . 2002 . 11882030 . 10.1046/j.1365-2249.2002.01712.x . 1906294 .
• Frank S, Schulthess T, Landwehr R, etal . Characterization of the matrilin coiled-coil domains reveals seven novel isoforms . J. Biol. Chem. . 277 . 21 . 19071–9 . 2002 . 11896063 . 10.1074/jbc.M202146200 . free.
• Song HR, Li QW, Oh CW, etal . Mesomelic dwarfism in pseudoachondroplasia . Journal of Pediatric Orthopaedics B . 13 . 5 . 340–4 . 2004 . 10.1097/01202412-200409000-00012 . 15552564 . 23170290 .
• Otsuki T, Ota T, Nishikawa T, etal . Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries . DNA Res. . 12 . 2 . 117–26 . 2007 . 16303743 . 10.1093/dnares/12.2.117 . free .
• Gregory SG, Barlow KF, McLay KE, etal . The DNA sequence and biological annotation of human chromosome 1 . Nature . 441 . 7091 . 315–21 . 2006 . 16710414 . 10.1038/nature04727 . 2006Natur.441..315G . free .

Notes and References

1. Web site: Entrez Gene: MATN1 matrilin 1, cartilage matrix protein.
2. Jenkins RN, Osborne-Lawrence SL, Sinclair AK, Eddy RL, Byers MG, Shows TB, Duby AD . Structure and chromosomal location of the human gene encoding cartilage matrix protein . J. Biol. Chem. . 265 . 32 . 19624–31 . November 1990 . 10.1016/S0021-9258(17)45417-2 . 2246248 . free .
3. Deák F, Piecha D, Bachrati C, Paulsson M, Kiss I . Primary structure and expression of matrilin-2, the closest relative of cartilage matrix protein within the von Willebrand factor type A-like module superfamily . J. Biol. Chem. . 272 . 14 . 9268–74 . April 1997 . 9083061 . 10.1074/jbc.272.14.9268. free .
4. Montanaro L, Parisini P, Greggi T, Di Silvestre M, Campoccia D, Rizzi S, Arciola CR . Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis . Scoliosis . 1 . 21 . 2006 . 17176459 . 1769398 . 10.1186/1748-7161-1-21 . free .