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MATN3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MATN3 gene

The MATN3 gene provides instructions for producing matrilin-3, a protein essential for the structure of cartilage and the development of bone.

Normal Function

The MATN3 gene provides instructions for making matrilin-3, a protein found in the extracellular matrix—the lattice of molecules surrounding cells. Matrilin-3 is primarily located near cartilage-forming cells (chondrocytes) and in ligaments and tendons. Chondrocytes are vital for osteogenesis, the process where cartilage is converted into bone in the spine, hips, and limbs.

While the exact function of the MATN3 gene is still being researched, matrilin-3 is believed to help organize collagen and other cartilage proteins. It interacts with the COMP protein, type II collagen, and type IX collagen, all of which are critical for healthy cartilage and bone formation.

Health Conditions Related to Genetic Changes

Multiple epiphyseal dysplasia

At least 14 mutations in the MATN3 gene are known to cause a mild form of multiple epiphyseal dysplasia. These mutations typically affect the A-domain of the matrilin-3 protein. A common mutation, known as Arg121Trp (R121W), accounts for approximately 40 percent of all MATN3 mutations.

The mechanism of the disease involves:

  • Improper folding: Mutations prevent matrilin-3 from folding correctly.
  • Intracellular retention: Instead of reaching the extracellular matrix, the protein remains trapped in the endoplasmic reticulum.
  • Cell death: The accumulation of misfolded protein causes the endoplasmic reticulum to enlarge, eventually leading to the death of the chondrocyte.
  • Growth impact: The premature death of these cells results in diminished long bone growth and short stature.

Other Names for This Gene

  • EDM5
  • MATN3_HUMAN

Frequently Asked Questions

Multiple epiphyseal dysplasia can be caused by mutations in several genes, most commonly COMP, MATN3, and COL9A1, COL9A2, or COL9A3. MATN3-related MED (often classified as EDM5) tends to present with a milder skeletal phenotype compared to COMP-related MED. Patients typically have normal or near-normal adult stature or only mild short-limbed dwarfism, with symptoms primarily confined to joint stiffness, waddling gait, and pain in the hips and knees beginning in early-to-mid childhood.
Management focuses on protecting articular cartilage and maintaining joint mobility without excessive wear. Low-impact cardiovascular activities, such as swimming and stationary cycling, are strongly recommended over repetitive high-impact sports like running or jumping. Physical therapy helps strengthen periarticular muscles to stabilize the knees and hips. Maintaining an optimal body weight is critical to reduce mechanical load on weight-bearing joints, and nonsteroidal anti-inflammatory drugs (NSAIDs) are commonly used under medical guidance during symptomatic flares.
Because the mutated matrilin-3 protein fails to organize cartilage collagen properly, the protective articular cartilage on the ends of long bones deteriorates prematurely. This leads to early-onset osteoarthritis, particularly in the weight-bearing hip and knee joints, often beginning in a person's twenties or thirties. Many adults with MATN3 mutations eventually require total hip or knee arthroplasty (joint replacement) at a significantly younger age than the general population.
Most MATN3-related multiple epiphyseal dysplasia (MED) cases follow an autosomal dominant inheritance pattern. This means a person needs only one mutated copy of the MATN3 gene to develop the disorder. An affected parent has a 50 percent chance of passing the condition to each child. A small number of families have been identified with a rare autosomal recessive form caused by inheriting two mutated copies, which typically presents with a slightly different clinical profile.
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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