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GFM1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

GFM1 gene

The GFM1 gene provides instructions for creating an enzyme critical for mitochondrial protein production and energy metabolism within cells.

Normal Function

The GFM1 gene provides instructions for making an enzyme called mitochondrial translation elongation factor G1. This enzyme is found in cell structures called mitochondria, which are the energy-producing centers within cells. While most proteins are produced from DNA in the cell nucleus, a few are produced from DNA stored in mitochondria (mtDNA). Mitochondrial translation elongation factor G1 is involved in the production of proteins from mtDNA through a process called translation. The mtDNA genes provide instructions for products involved in protein production and the process of turning energy from food into a form cells can use (oxidative phosphorylation).

During translation, mtRNA molecules (protein blueprints) interact with specialized complexes called ribosomes to assemble amino acids into a fully formed protein. The role of mitochondrial translation elongation factor G1 is to coordinate the movements of mtRNA molecules with ribosomes to allow assembly of the protein to continue until it is complete.

Health Conditions Related to Genetic Changes

Combined oxidative phosphorylation deficiency 1

At least 18 mutations in the GFM1 gene have been found to cause combined oxidative phosphorylation deficiency 1, a condition causing severe neurologic and liver dysfunction. Most of these mutations change single amino acids in the enzyme, reducing or eliminating its function. This results in fewer mitochondrial proteins involved in oxidative phosphorylation. Organs with high energy demands, such as the brain and liver, are particularly affected, leading to cell death. It is thought that other tissues, such as the heart and muscles, are not affected because they possess additional enzymes that can perform mitochondrial protein production.

Leigh syndrome

The GFM1 gene has also been associated with Leigh syndrome.

Other Names for This Gene

  • EFG
  • EFG1
  • EFGM
  • EGF1
  • G translation elongation factor, mitochondrial
  • GFM
  • hEFG1
  • mitochondrial elongation factor G
  • mitochondrial elongation factor G1

Frequently Asked Questions

Initial work‑up includes serum lactate, pyruvate, and liver function panels. Definitive confirmation requires molecular genetic testing (next‑generation sequencing panel or whole‑exome sequencing) targeting the GFM1 gene. In some centers a muscle biopsy with respiratory chain enzyme analysis may be performed to demonstrate combined OXPHOS deficiency.
GFM1 disease follows an autosomal recessive pattern. Both parents are typically carriers of one pathogenic allele. Each subsequent pregnancy has a 25 % chance of being affected, a 50 % chance of being an asymptomatic carrier, and a 25 % chance of inheriting two normal alleles. Carrier testing and prenatal or pre‑implantation genetic diagnosis are options for at‑risk families.
Infants may present with poor feeding, failure to thrive, hypotonia, and progressive liver dysfunction (elevated transaminases, jaundice). Neurologic signs such as seizures, developmental delay, or abnormal brain MRI can appear within the first months of life.
There is no cure; management focuses on supportive care. This includes optimizing nutrition (high‑calorie formulas), treating liver failure (potential transplant evaluation), controlling seizures, and providing physiotherapy for hypotonia. Experimental approaches such as mitochondrial‑targeted antioxidants (e.g., coenzyme Q10, riboflavin) are sometimes tried, but evidence is limited.
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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