Matrilin 1, cartilage matrix protein, also known as MATN1, is a
matrilin Matrilins are proteoglycan-associated proteins that are major components of extracellular matrix of various tissues. They include:
* Matrilin-1
* Matrilin-2
* Matrilin-3
* Matrilin-4
Extracellular matrix proteins
{{Protein-stub ...
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
which in humans is encoded by the ''MATN1''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Function
This gene encodes a member of
von Willebrand factor
Von Willebrand factor (VWF) () is a blood glycoprotein involved in hemostasis, specifically, platelet adhesion. It is deficient and/or defective in von Willebrand disease and is involved in many other diseases, including thrombotic thrombocytopen ...
A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the
extracellular matrices
In biology, the extracellular matrix (ECM), also called intercellular matrix, is a three-dimensional network consisting of extracellular macromolecules and minerals, such as collagen, enzymes, glycoproteins and hydroxyapatite that provide structu ...
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
Scoliosis is a condition in which a person's spine has a sideways curve. The curve is usually "S"- or "C"-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not t ...
.
References
Further reading
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{{gene-1-stub
Extracellular matrix proteins