MT-ATP6

MT-ATP6 is a gene that encodes a subunit of the mitochondrial ATP synthase, an enzyme responsible for the production of adenosine triphosphate (ATP) in mitochondria. This gene is located within the mitochondrial genome and mutations in this gene have been associated with several mitochondrial disorders, including Leber's hereditary optic neuropathy and NARP syndrome.

Function

The MT-ATP6 gene encodes a subunit of the mitochondrial ATP synthase, an enzyme that plays a crucial role in the production of ATP, the main source of energy for cells. This enzyme is located in the inner mitochondrial membrane and uses the energy from the flow of protons across the membrane to synthesize ATP from adenosine diphosphate (ADP) and inorganic phosphate.

Clinical significance

Mutations in the MT-ATP6 gene have been associated with several mitochondrial disorders. These include Leber's hereditary optic neuropathy, a condition that causes sudden vision loss, and NARP syndrome, a condition that affects the nervous system, muscles, and heart. Other conditions associated with mutations in this gene include Maternally inherited Leigh syndrome and Mitochondrial complex V deficiency, nuclear type 1.

See also

• Mitochondrial DNA
• ATP synthase
• Mitochondrial disease