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Reviewed February 2008
What is the official name of the MATN3 gene?
The official name of this gene is “matrilin 3.”
MATN3 is the gene's official symbol. The MATN3 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the MATN3 gene?
The MATN3 gene provides the instructions for making a protein called matrilin-3. This protein is found in the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. Specifically, matrilin-3 is located in the extracellular matrix surrounding the cells that make up ligaments and tendons, and near cartilage-forming cells (chondrocytes). Chondrocytes play an important role in bone formation (osteogenesis). In the bones of the spine, hips, and limbs, the process of osteogenesis starts with the formation of cartilage, which is then converted into bone.
The normal function of the MATN3 gene is not fully understood; however, research suggests that matrilin-3 may play a role in the organization of collagen and other cartilage proteins. Collagens are proteins that provide strength and support to many body tissues, including cartilage. Matrilin-3 has been shown to interact with the COMP protein, type II collagen, and type IX collagen, which are all important in cartilage and bone formation.
How are changes in the MATN3 gene related to health conditions?
Where is the MATN3 gene located?
Cytogenetic Location: 2p24-p23
Molecular Location on chromosome 2: base pairs 19,992,051 to 20,012,693
The MATN3 gene is located on the short (p) arm of chromosome 2 between positions 24 and 23.
More precisely, the MATN3 gene is located from base pair 19,992,051 to base pair 20,012,693 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about MATN3?
You and your healthcare professional may find the following resources about MATN3 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the MATN3 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding MATN3?
amino acid ; bone formation ; cartilage ; cell ; chondrocyte ; collagen ; domain ; dysplasia ; endoplasmic reticulum ; extracellular ; extracellular matrix ; gene ; mutation ; osteogenesis ; protein ; short stature ; stature
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.