Matrilin 1, cartilage matrix protein, also known as MATN1, is a
matrilin protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
which in humans is encoded by the ''MATN1''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
This gene encodes a member of
von Willebrand factor
Von Willebrand factor (VWF) () is a blood glycoprotein that promotes primary hemostasis, specifically, platelet adhesion. It is deficient and/or defective in von Willebrand disease and is involved in many other diseases, including thrombotic thro ...
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.
References
Further reading
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{{gene-1-stub
Extracellular matrix proteins