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MT-ATP6 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MT-ATP6 gene

The MT-ATP6 gene provides instructions for making a protein essential for mitochondrial function and energy production through oxidative phosphorylation.

Normal Function

The MT-ATP6 gene provides information for making a protein that is essential for normal mitochondrial function. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. These cellular structures produce energy through a process called oxidative phosphorylation, which uses oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main energy source.

The MT-ATP6 protein forms one part (subunit) of a large enzyme called ATP synthase. This enzyme, which is also known as complex V, is responsible for the final step of oxidative phosphorylation. Specifically, one segment of ATP synthase allows positively charged particles, called protons, to flow across a specialized membrane inside mitochondria. Another segment of the enzyme uses the energy created by this proton flow to convert a molecule called adenosine diphosphate (ADP) to ATP.

Health Conditions Related to Genetic Changes

Leigh syndrome

Mutations in the MT-ATP6 gene have been found in approximately 10 percent of people with Leigh syndrome. Leigh syndrome is a progressive brain disorder that usually appears in infancy or early childhood. Affected children may experience delayed development, muscle weakness, problems with movement, or difficulty breathing.

MT-ATP6 gene mutations associated with Leigh syndrome change one DNA building block (nucleotide) in the MT-ATP6 gene. The most common genetic change replaces the nucleotide thymine with the nucleotide guanine at position 8993 (written as T8993G). The mutations that cause Leigh syndrome impair the function or stability of the ATP synthase complex, inhibiting ATP production and impairing oxidative phosphorylation.

Although the exact mechanism is unclear, researchers believe that impaired oxidative phosphorylation can lead to cell death because of decreased energy available in the cell. Certain tissues that require large amounts of energy, such as the brain, muscles, and heart, seem especially sensitive to decreases in cellular energy. Cell death in the brain and in other sensitive tissues likely cause the characteristic signs and symptoms of Leigh syndrome.

Mitochondrial complex V deficiency

MedlinePlus Genetics provides information about Mitochondrial complex V deficiency.

Neuropathy, ataxia, and retinitis pigmentosa

Some of the mutations that cause Leigh syndrome are also responsible for a similar, but less severe, condition called neuropathy, ataxia, and retinitis pigmentosa (NARP). A small number of mutations in the MT-ATP6 gene have been identified in people with NARP. Each of these mutations changes one nucleotide in the MT-ATP6 gene. As in Leigh syndrome, the most common genetic change associated with NARP replaces the nucleotide thymine with the nucleotide guanine at position 8993 (written as T8993G).

Most of the body's cells contain thousands of mitochondria, each with one or more copies of mitochondrial DNA. The severity of some mitochondrial disorders is associated with the percentage of mitochondria in each cell that has a particular genetic change. People with Leigh syndrome due to an MT-ATP6 gene mutation tend to have a very high percentage of mitochondria with the mutation (from more than 90 percent to 95 percent). The less-severe features of NARP result from a lower percentage of mitochondria with the mutation, typically 70 percent to 90 percent.

Other disorders

A condition called familial bilateral striatal necrosis, which is similar to Leigh syndrome, can also result from changes in the MT-ATP6 gene. In the few reported cases with these mutations, affected children have delayed development, problems with movement and coordination, weak muscle tone (hypotonia), and an unusually small head size (microcephaly).

Other Names for This Gene

  • ATP synthase 6
  • ATP synthase F0 subunit 6
  • ATP6
  • ATP6_HUMAN
  • ATPase protein 6
  • ATPase-6
  • ATPASE6
  • mitochondrially encoded ATP synthase 6
  • MTATP6
  • Su6m

Frequently Asked Questions

cute metabolic decompensation and neurological decline are often triggered by physiological stressors that increase cellular energy demand. Common triggers include febrile viral illnesses, prolonged fasting, dehydration, and general anesthesia. During these events, the already compromised ATP synthase cannot keep up with energy requirements, leading to lactic acid accumulation and rapid death of sensitive brain tissues, particularly in the basal ganglia and brainstem.
Diagnosis typically involves high-throughput next-generation sequencing of mitochondrial DNA from blood, saliva, or urinary epithelial cells to identify the specific nucleotide change and calculate the heteroplasmy percentage. Additional diagnostic evaluation includes brain magnetic resonance imaging (MRI), which often shows characteristic bilateral, symmetric hyperintensities in the basal ganglia, and metabolic panels assessing elevated plasma lactate, pyruvate, and cerebrospinal fluid (CSF) lactate levels.
No. The MT-ATP6 gene is part of the mitochondrial genome (mtDNA), which is inherited exclusively through maternal lineage. Mitochondria in human sperm are typically degraded after fertilization, so only females pass mitochondrial genes to their biological offspring. An affected or carrier mother can pass the mutation to all of her children, but an affected male will not transmit the variant to any of his offspring.
Mitochondrial DNA mutations exist in a state called heteroplasmy, meaning a single cell contains a mixture of normal and mutated mitochondrial genomes. In the common MT-ATP6 mutation T8993G, clinical severity depends heavily on this percentage. When the mutant load is roughly 70 to 90 percent, individuals typically develop Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP), a milder syndrome presenting in late childhood or adulthood. When the mutant load exceeds 90 to 95 percent, it severely shuts down ATP production, leading to the devastating infantile-onset neurodegenerative disorder known as Leigh syndrome.
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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