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MATR3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MATR3 gene

The MATR3 gene provides instructions for creating the matrin 3 protein, which plays a role in nuclear function and cell survival.

Normal Function

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.

Health Conditions Related to Genetic Changes

Distal myopathy 2

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.

Amyotrophic lateral sclerosis

MedlinePlus Genetics provides information about Amyotrophic lateral sclerosis.

Other Names for This Gene

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

Genomic Location

The MATR3 gene is found on chromosome 5.

Frequently Asked Questions

Progressive weakness of the hand and foot extensors, difficulty with fine motor tasks, and a hoarse voice or vocal‑cord weakness—especially when onset is in the third to fifth decade—are red flags that may lead a neurologist to order a muscle‑biopsy‑guided gene panel that includes MATR3.
There is no disease‑specific drug, so care focuses on multidisciplinary support: low‑impact aerobic exercise, occupational therapy for hand function, speech therapy for vocal‑cord weakness, and regular cardiac and respiratory monitoring because some patients develop cardiomyopathy or sleep‑disordered breathing.
Penetrance appears incomplete; some carriers, especially females, may have very mild or no muscle symptoms, while others develop full‑blown distal myopathy. Genetic counseling should discuss this variability and the possibility of late‑onset manifestations.
fter DNA is extracted from blood, Sanger sequencing or next‑generation sequencing targeting exon 3 of MATR3 is performed; the presence of a c.254C>G substitution confirms the S85C change, and segregation analysis can be done in family members.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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