Matrilin-1

Matrilin 1, cartilage matrix protein, also known as MATN1, is a matrilin protein which in humans is encoded by the MATN1 gene.[5][6][7]

MATN1
Identifiers
AliasesMATN1, CMP, CRTM, matrilin 1, cartilage matrix protein, matrilin 1
External IDsOMIM: 115437 MGI: 106591 HomoloGene: 1783 GeneCards: MATN1
Orthologs
SpeciesHumanMouse
Entrez

4146

17180

Ensembl

ENSG00000162510

ENSMUSG00000040533

UniProt

P21941

P51942

RefSeq (mRNA)

NM_002379

NM_010769

RefSeq (protein)

NP_002370

NP_034899

Location (UCSC)Chr 1: 30.71 – 30.72 MbChr 4: 130.67 – 130.68 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5] Three microsatellite polymorphisms in the gene, respectively consisting of 103 bp, 101 bp and 99 bp, have been linked to idiopathic scoliosis.[8]

References

  1. GRCh38: Ensembl release 89: ENSG00000162510 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000040533 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: MATN1 matrilin 1, cartilage matrix protein".
  6. Jenkins RN, Osborne-Lawrence SL, Sinclair AK, Eddy RL, Byers MG, Shows TB, Duby AD (November 1990). "Structure and chromosomal location of the human gene encoding cartilage matrix protein". J. Biol. Chem. 265 (32): 19624–31. doi:10.1016/S0021-9258(17)45417-2. PMID 2246248.
  7. Deák F, Piecha D, Bachrati C, Paulsson M, Kiss I (April 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. doi:10.1074/jbc.272.14.9268. PMID 9083061.
  8. 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.

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.