MATN1
Description
The MATN1 (matrilin 1) is a protein-coding gene located on chromosome 1.
Matrilin 1, cartilage matrix protein, also known as MATN1, is a matrilin protein which in humans is encoded by the MATN1 gene. 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.
MATN1, also known as cartilage matrix protein, is a major component of the extracellular matrix of non-articular cartilage. It binds to collagen.
MATN1 is also known as CMP, CRTM.
