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SLC25A4 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC25A4 gene

The SLC25A4 gene encodes the ANT1 protein, which facilitates the exchange of energy molecules across mitochondrial membranes.

Normal Function

The SLC25A4 gene provides the instructions for making a protein called adenine nucleotide translocase type 1 (ANT1). ANT1 functions in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. This process, called oxidative phosphorylation, converts adenosine diphosphate (ADP) into adenosine triphosphate (ATP), the cell's main energy source. ANT1 forms a channel in the inner membrane of mitochondria. This channel allows ADP into mitochondria and ATP out of mitochondria to be used as energy for the cell. ANT1 may also be a part of another structure in the inner membrane called the mitochondrial permeability transition pore. This structure allows various molecules to pass into mitochondria and is thought to play a role in the self-destruction (apoptosis) of the cell.

Health Conditions Related to Genetic Changes

Progressive external ophthalmoplegia

At least five mutations in the SLC25A4 gene have been reported to cause an eye condition called progressive external ophthalmoplegia. This disorder weakens the muscles that control eye movement and causes the eyelids to droop (ptosis). When caused by SLC25A4 gene mutations, progressive external ophthalmoplegia is inherited in an autosomal dominant pattern, which means one copy of the gene in each cell is mutated. These mutations impair the movement of ADP and ATP into and out of mitochondria; however, it is not well understood what role these changes play in the cause of the condition.

Mitochondria each contain a small amount of DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. Although the mechanism is unclear, mutations in the SLC25A4 gene result in large deletions of genetic material from mtDNA in muscle tissue. Researchers have not determined how deletions of mtDNA lead to the specific signs and symptoms of progressive external ophthalmoplegia, although the features of the condition are probably related to impaired oxidative phosphorylation. It has been suggested that eye muscles are commonly affected by mitochondrial defects because they are especially dependent on oxidative phosphorylation for energy.

Other disorders

Mutations in the SLC25A4 gene can also cause a disorder characterized by myopathy and hypertrophic cardiomyopathy. Myopathy is weakness of the muscles used for movement, and cardiomyopathy is a thickening of the heart muscle that forces the heart to work harder to pump blood. This disorder is inherited in an autosomal recessive pattern, which means both copies of the SLC25A4 gene in each cell are mutated. The mutations associated with this disorder prevent production of ANT1 channels. As in progressive external ophthalmoplegia, the mutations result in deletions of mtDNA, although the mechanism is unclear.

Other Names for This Gene

  • AAC1
  • adenine nucleotide translocator 1 (skeletal muscle)
  • ADP,ATP carrier protein 1
  • ADP,ATP carrier protein, heart/skeletal muscle
  • ADP/ATP translocase 1
  • ADT1_HUMAN
  • ANT
  • ANT 1
  • ANT1
  • heart/skeletal muscle ATP/ADP translocator
  • PEO2
  • PEO3
  • solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
  • T1

Frequently Asked Questions

No disease‑modifying therapy has been proven to halt or reverse mitochondrial dysfunction caused by SLC25A4 mutations. Management is supportive: optimizing nutrition, avoiding mitochondrial toxins (e.g., certain antibiotics, excessive alcohol), and using supplements such as coenzyme Q10 or riboflavin may provide modest benefit in some patients, though evidence is limited. Physical therapy, occupational therapy, and regular ophthalmologic care are essential to maintain function and quality of life.
PEO due to SLC25A4 follows an autosomal‑dominant inheritance pattern, meaning a single altered copy of the gene can cause disease. Each child of an affected individual has a 50 % chance of inheriting the mutation. Genetic counseling is recommended to discuss testing options. Predictive testing in asymptomatic minors is generally reserved for situations where early medical surveillance would change management; otherwise, testing is often deferred until adulthood.
Diagnosis combines genetic testing (sequencing of SLC25A4) with clinical evaluation. Muscle biopsy may show ragged‑red fibers or mitochondrial abnormalities, and mitochondrial DNA studies can reveal secondary deletions. Electromyography (EMG) can document myopathic changes, and MRI of the orbits may demonstrate atrophy of extra‑ocular muscles. These investigations help differentiate SLC25A4‑related PEO from other mitochondrial or neuromuscular disorders.
mutation in SLC25A4 is most commonly linked to progressive external ophthalmoplegia (PEO). This condition causes slowly worsening weakness of the muscles that move the eyes, leading to limited eye movement and drooping eyelids (ptosis). Vision itself is usually preserved, but patients may experience difficulty reading, driving, or looking upward. Energy‑fatigue and mild muscle weakness elsewhere can also occur. Management focuses on regular ophthalmology follow‑up, use of eyelid crutches or surgery for ptosis, and supportive therapies such as low‑vision aids if needed.
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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