MT-ATP8

MT-ATP8 is a gene that in humans is encoded by the MT-ATP8 nucleotide sequence. This gene is a member of the ATP synthase subunit 8 family and is located in the mitochondrion, an organelle responsible for producing most of the cell's supply of adenosine triphosphate (ATP), which is used as a source of chemical energy.

Function

The MT-ATP8 gene provides instructions for making a protein that is a part of a large enzyme complex known as ATP synthase. This complex is embedded in the inner membrane of mitochondria and is essential for normal mitochondrial function. The ATP synthase complex uses the energy stored in a gradient of protons (hydrogen ions) across the inner mitochondrial membrane to generate ATP. The MT-ATP8 protein forms part of the channel through which protons flow into the mitochondrion's interior, driving the production of ATP.

Clinical significance

Mutations in the MT-ATP8 gene have been associated with a variety of mitochondrial disorders, including Leber's hereditary optic neuropathy (LHON), neuropathy, ataxia, and retinitis pigmentosa (NARP). These conditions are characterized by a wide variety of symptoms, including vision loss, muscle weakness, and problems with balance and coordination.

See also

• ATP synthase
• Mitochondrion
• Adenosine triphosphate