| 释义 |
- Function
- References
- Further reading
{{Infobox_gene}}Matrilin 1, cartilage matrix protein, also known as MATN1, is a 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.[1] Three microsatellite polymorphisms in the gene, respectively consisting of 103 bp, 101 bp and 99 bp, have been linked to idiopathic scoliosis.[4] References 1. ^1 {{cite web | title = Entrez Gene: MATN1 matrilin 1, cartilage matrix protein| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4146| accessdate = }}
2. ^{{cite journal |vauthors=Jenkins RN, Osborne-Lawrence SL, Sinclair AK, Eddy RL, Byers MG, Shows TB, Duby AD | title = Structure and chromosomal location of the human gene encoding cartilage matrix protein | journal = J. Biol. Chem. | volume = 265 | issue = 32 | pages = 19624–31 |date=November 1990 | pmid = 2246248 | doi = | url = http://www.jbc.org/cgi/content/abstract/265/32/19624 }}
3. ^{{cite journal |vauthors=Deák F, Piecha D, Bachrati C, Paulsson M, Kiss I | title = Primary structure and expression of matrilin-2, the closest relative of cartilage matrix protein within the von Willebrand factor type A-like module superfamily | journal = J. Biol. Chem. | volume = 272 | issue = 14 | pages = 9268–74 |date=April 1997 | pmid = 9083061 | doi = 10.1074/jbc.272.14.9268}}
4. ^{{cite journal |vauthors=Montanaro L, Parisini P, Greggi T, Di Silvestre M, Campoccia D, Rizzi S, Arciola CR | title = Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis | journal = Scoliosis | volume = 1 | issue = | pages = 21 | year = 2006 | pmid = 17176459 | pmc = 1769398 | doi = 10.1186/1748-7161-1-21 | url = }}
Further reading {{refbegin | 2}}- {{cite journal |vauthors=Jenkins RN, Osborne-Lawrence SL, Sinclair AK, etal |title=Structure and chromosomal location of the human gene encoding cartilage matrix protein |journal=J. Biol. Chem. |volume=265 |issue= 32 |pages= 19624–31 |year= 1991 |pmid= 2246248 |doi= }}
- {{cite journal |vauthors=Loughlin J, Irven C, Sykes B |title=Exclusion of the cartilage link protein and the cartilage matrix protein genes as the mutant loci in several heritable chondrodysplasias |journal=Hum. Genet. |volume=94 |issue= 6 |pages= 698–700 |year= 1995 |pmid= 7989046 |doi= 10.1007/bf00206966}}
- {{cite journal |vauthors=Deák F, Piecha D, Bachrati C, etal |title=Primary structure and expression of matrilin-2, the closest relative of cartilage matrix protein within the von Willebrand factor type A-like module superfamily |journal=J. Biol. Chem. |volume=272 |issue= 14 |pages= 9268–74 |year= 1997 |pmid= 9083061 |doi=10.1074/jbc.272.14.9268 }}
- {{cite journal |vauthors=Makihira S, Yan W, Ohno S, etal |title=Enhancement of cell adhesion and spreading by a cartilage-specific noncollagenous protein, cartilage matrix protein (CMP/Matrilin-1), via integrin alpha1beta1 |journal=J. Biol. Chem. |volume=274 |issue= 16 |pages= 11417–23 |year= 1999 |pmid= 10196235 |doi=10.1074/jbc.274.16.11417 }}
- {{cite journal |vauthors=Hansson AS, Lu S, Holmdahl R |title=Extra-articular cartilage affected in collagen-induced, but not pristane-induced, arthritis models |journal=Clin. Exp. Immunol. |volume=127 |issue= 1 |pages= 37–42 |year= 2002 |pmid= 11882030 |doi=10.1046/j.1365-2249.2002.01712.x | pmc=1906294 }}
- {{cite journal |vauthors=Frank S, Schulthess T, Landwehr R, etal |title=Characterization of the matrilin coiled-coil domains reveals seven novel isoforms |journal=J. Biol. Chem. |volume=277 |issue= 21 |pages= 19071–9 |year= 2002 |pmid= 11896063 |doi= 10.1074/jbc.M202146200 }}
- {{cite journal |vauthors=Song HR, Li QW, Oh CW, etal |title=Mesomelic dwarfism in pseudoachondroplasia |journal=Journal of Pediatric Orthopaedics. Part B / European Paediatric Orthopaedic Society, Pediatric Orthopaedic Society of North America |volume=13 |issue= 5 |pages= 340–4 |year= 2004 |pmid= 15552564 |doi= }}
- {{cite journal |vauthors=Otsuki T, Ota T, Nishikawa T, etal |title=Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries |journal=DNA Res. |volume=12 |issue= 2 |pages= 117–26 |year= 2007 |pmid= 16303743 |doi= 10.1093/dnares/12.2.117 }}
- {{cite journal |vauthors=Gregory SG, Barlow KF, McLay KE, etal |title=The DNA sequence and biological annotation of human chromosome 1 |journal=Nature |volume=441 |issue= 7091 |pages= 315–21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 }}
{{refend}}{{gene-1-stub}} 1 : Extracellular matrix proteins |