Matrilin 1, cartilage matrix protein, also known as MATN1, is a
matrilinprotein which in humans is encoded by the MATN1gene.[5][6][7]
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]
Loughlin J, Irven C, Sykes B (1995). "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.
doi:
10.1007/bf00206966.
PMID7989046.
S2CID30333805.
Matrilin 1, cartilage matrix protein, also known as MATN1, is a
matrilinprotein which in humans is encoded by the MATN1gene.[5][6][7]
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]
Loughlin J, Irven C, Sykes B (1995). "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.
doi:
10.1007/bf00206966.
PMID7989046.
S2CID30333805.