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

GNE gene

The GNE gene provides instructions for an enzyme that produces sialic acid, a sugar critical for cell signaling, adhesion, and movement.

Normal Function

The GNE gene provides instructions for making an enzyme that is found in cells and tissues throughout the body. This enzyme plays a key role in a chemical pathway that produces sialic acid, which is a simple sugar that attaches to the ends of more complex molecules on the surface of cells. By modifying these molecules, sialic acid influences a wide variety of cellular functions, including cell movement (migration), the attachment of cells to one another (adhesion), signaling between cells, and inflammation.

The enzyme produced from the GNE gene is responsible for two steps in the formation of sialic acid. It first converts a molecule known as UDP-GlcNAc (UDP-N-acetylglucosamine) to a similar molecule called ManNAc (N-acetylmannosamine). In the next step, the enzyme transfers a phosphate group to ManNAc to create ManNAc-6-phosphate. Other enzymes then convert ManNAc-6-phosphate to sialic acid.

Health Conditions Related to Genetic Changes

GNE myopathy

Variants in the GNE gene can cause GNE myopathy, a condition that leads to progressive muscle weakness in adults. These variants reduce the activity of the enzyme, decreasing the production of sialic acid. While sialic acid is important for many tissues, it is currently unclear why the signs and symptoms of this disorder appear to be limited to skeletal muscles.

Sialuria

Variants in the allosteric site of the GNE enzyme can disrupt the feedback system that controls sialic acid production. This results in an overproduction of sialic acid, which builds up within cells and is excreted in urine.

Other Disorders

Some individuals with GNE variants experience GNE-related thrombocytopenia, a condition characterized by a lower number of platelets. Because platelets have less sialic acid, the liver removes them from the blood more quickly, which may cause bleeding issues.

Other Names for This Gene

  • Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
  • DMRV
  • GLCNE
  • IBM2
  • Uae1
  • UDP-GlcNAc-2-epimerase/ManAc kinase
  • UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

Frequently Asked Questions

There is no definitive cure, but several therapeutic strategies are being explored. Oral sialic acid supplementation (N‑acetylmannosamine) aims to increase sialic acid levels, while investigational drugs such as 2,3‑butanediol or gene‑editing approaches are in early trials. Patients should discuss these options with a neuromuscular specialist and consider enrolling in clinical studies.
Confirmation requires a combination of clinical examination, electromyography (EMG) showing myopathic changes, and muscle biopsy revealing rimmed vacuoles. Genetic testing—usually a targeted GNE panel or whole‑exome sequencing—identifies pathogenic variants, confirms the diagnosis, and assists in family counseling and potential eligibility for clinical trials.
Regular, low‑impact aerobic exercise (e.g., swimming, cycling) and strength training with resistance bands can help preserve muscle mass. Physical therapy should focus on maintaining joint range of motion, preventing contractures, and using assistive devices (canes, walkers) early to reduce fall risk. Adequate nutrition, including sufficient protein intake, and avoiding overexertion are also important for long‑term function.
Patients typically report progressive, painless weakness that starts in the distal lower limbs—especially the calf muscles—leading to difficulty walking, climbing stairs, or rising from a seated position. Over time, the weakness may spread proximally to the thighs and upper arms, but the pattern remains relatively slow and insidious.
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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