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Genetics Home Reference: your guide to understanding genetic conditions
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MATR3

Reviewed November 2011

What is the official name of the MATR3 gene?

The official name of this gene is “matrin 3.”

MATR3 is the gene's official symbol. The MATR3 gene is also known by other names, listed below.

What is the normal function of the MATR3 gene?

The MATR3 gene provides instructions for making a protein called matrin 3, which is found in the nucleus of the cell as part of the nuclear matrix. The nuclear matrix is a network of proteins that provides structural support for the nucleus and aids in several important nuclear functions.

The function of the matrin 3 protein is unknown. This protein can attach to (bind) RNA, which is a chemical cousin of DNA. Some studies indicate that matrin 3 binds and stabilizes a type of RNA called messenger RNA (mRNA), which provides the genetic blueprint for proteins. Matrin 3 may also bind certain abnormal RNAs that could lead to nonfunctional or harmful proteins, thereby blocking the formation of such proteins. Other studies suggest that the matrin 3 protein may be involved in cell survival.

How are changes in the MATR3 gene related to health conditions?

distal myopathy 2 - caused by mutations in the MATR3 gene

At least one mutation in the MATR3 gene has been identified in people with distal myopathy 2, a condition characterized by muscle and vocal cord weakness. The MATR3 gene mutation associated with distal myopathy 2 changes a single protein building block (amino acid) in the matrin 3 protein. This mutation, known as Ser85Cys (or S85C), replaces the amino acid serine with the amino acid cysteine at position 85 of the protein.

The effect of the S85C mutation on the function of the matrin 3 protein is unknown, although one study indicates that the mutation may change the location of the protein in the nucleus. Researchers are working to determine how this gene mutation leads to the signs and symptoms of distal myopathy 2.

Where is the MATR3 gene located?

Cytogenetic Location: 5q31.2

Molecular Location on chromosome 5: base pairs 139,273,751 to 139,331,676

The MATR3 gene is located on the long (q) arm of chromosome 5 at position 31.2.

The MATR3 gene is located on the long (q) arm of chromosome 5 at position 31.2.

More precisely, the MATR3 gene is located from base pair 139,273,751 to base pair 139,331,676 on chromosome 5.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about MATR3?

You and your healthcare professional may find the following resources about MATR3 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 MATR3 gene or gene products?

  • MATR3_HUMAN
  • matrin-3
  • matrin-3 isoform a
  • matrin-3 isoform b
  • MGC9105
  • MPD2

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding MATR3?

amino acid ; cell ; cysteine ; distal ; DNA ; gene ; messenger RNA ; mRNA ; mutation ; nucleus ; protein ; RNA ; serine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Giordano G, Sánchez-Pérez AM, Montoliu C, Berezney R, Malyavantham K, Costa LG, Calvete JJ, Felipo V. Activation of NMDA receptors induces protein kinase A-mediated phosphorylation and degradation of matrin 3. Blocking these effects prevents NMDA-induced neuronal death. J Neurochem. 2005 Aug;94(3):808-18. Epub 2005 Jul 5. (http://www.ncbi.nlm.nih.gov/pubmed/16000164?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9782)
  • OMIM: MATRIN 3 (http://omim.org/entry/164015)
  • Przygodzka P, Boncela J, Cierniewski CS. Matrin 3 as a key regulator of endothelial cell survival. Exp Cell Res. 2011 Apr 1;317(6):802-11. doi: 10.1016/j.yexcr.2010.12.009. Epub 2010 Dec 21. (http://www.ncbi.nlm.nih.gov/pubmed/21182838?dopt=Abstract)
  • Salton M, Elkon R, Borodina T, Davydov A, Yaspo ML, Halperin E, Shiloh Y. Matrin 3 binds and stabilizes mRNA. PLoS One. 2011;6(8):e23882. doi: 10.1371/journal.pone.0023882. Epub 2011 Aug 17. (http://www.ncbi.nlm.nih.gov/pubmed/21858232?dopt=Abstract)
  • Salton M, Lerenthal Y, Wang SY, Chen DJ, Shiloh Y. Involvement of Matrin 3 and SFPQ/NONO in the DNA damage response. Cell Cycle. 2010 Apr 15;9(8):1568-76. Epub 2010 Apr 15. (http://www.ncbi.nlm.nih.gov/pubmed/20421735?dopt=Abstract)
  • Zhang Z, Carmichael GG. The fate of dsRNA in the nucleus: a p54(nrb)-containing complex mediates the nuclear retention of promiscuously A-to-I edited RNAs. Cell. 2001 Aug 24;106(4):465-75. (http://www.ncbi.nlm.nih.gov/pubmed/11525732?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2011
Published: July 7, 2014