MATN1
Encyclopedia
Matrilin 1, cartilage matrix protein, also known as MATN1, is a protein
which in humans is encoded by the MATN1 gene
.
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.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
which in humans is encoded by the MATN1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
This gene encodes a member of von Willebrand factorVon Willebrand factor
von Willebrand factor is a blood glycoprotein involved in hemostasis. It is deficient or defective in von Willebrand disease and is involved in a large number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome...
A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices
Extracellular matrix
In biology, the extracellular matrix is the extracellular part of animal tissue that usually provides structural support to the animal cells in addition to performing various other important functions. The extracellular matrix is the defining feature of connective tissue in animals.Extracellular...
of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias
Osteochondrodysplasia
Osteochondrodysplasia is a general term for a disorder of the development of bone and cartilage .-Achondroplasia:Achondroplasia is a type of autosomal dominant genetic disorder that is a common cause ofdwarfism...
. Three microsatellite polymorphisms in the gene, respectively consisting of 103 bp, 101 bp and 99 bp, have been linked to idiopathic scoliosis.