Matrilin-1: Difference between revisions
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'''Matrilin 1, cartilage matrix protein''', also known as '''MATN1''', is a |
'''Matrilin 1, cartilage matrix protein''', also known as '''MATN1''', is a [[protein]] which in humans is encoded by the ''MATN1'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: MATN1 matrilin 1, cartilage matrix protein| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4146| accessdate = }}</ref><ref name="pmid2246248">{{cite journal | author = 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 | year = 1990 | month = November | pmid = 2246248 | doi = | url = http://www.jbc.org/cgi/content/abstract/265/32/19624 | issn = }}</ref><ref name="pmid9083061">{{cite journal | author = 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 | year = 1997 | month = April | pmid = 9083061 | doi = | url = http://www.jbc.org/cgi/content/full/272/14/9268 | issn = }}</ref> |
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== Function == |
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| ⚫ | 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 matrix|extracellular matrices]] of various tissues. Mutations of this gene have been associated with variety of inherited [[osteochondrodysplasia|chondrodysplasias]].<ref name="entrez">{{cite web | title = Entrez Gene: MATN1 matrilin 1, cartilage matrix protein| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4146| accessdate = }}</ref> Three microsatellite polymorphisms in the gene, respectively consisting of 103 bp, 101 bp and 99 bp, have been linked to idiopathic scoliosis.<ref name="pmid17176459">{{cite journal | author = 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 = | issn = }}</ref> |
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==Further reading== |
== Further reading == |
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Revision as of 07:54, 20 March 2009
Template:PBB 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
- ^ a b "Entrez Gene: MATN1 matrilin 1, cartilage matrix protein".
- ^ Jenkins RN, Osborne-Lawrence SL, Sinclair AK, Eddy RL, Byers MG, Shows TB, Duby AD (1990). "Structure and chromosomal location of the human gene encoding cartilage matrix protein". J. Biol. Chem. 265 (32): 19624–31. PMID 2246248.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Deák F, Piecha D, Bachrati C, Paulsson M, Kiss I (1997). "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. PMID 9083061.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Montanaro L, Parisini P, Greggi T, Di Silvestre M, Campoccia D, Rizzi S, Arciola CR (2006). "Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis". Scoliosis. 1: 21. doi:10.1186/1748-7161-1-21. PMC 1769398. PMID 17176459.
{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
Further reading
 | This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it. |