ATP5E

ATP5E is a gene that encodes a subunit of mitochondrial ATP synthase, an enzyme that plays a crucial role in the production of ATP, the main source of cellular energy. This gene is located on chromosome 20 in humans.

Function

ATP5E is part of the ATP synthase complex, which is responsible for the production of adenosine triphosphate (ATP), the primary energy currency of the cell. The ATP5E subunit is part of the F1 sector of the ATP synthase complex, which is responsible for the enzymatic activity of the complex.

Structure

The ATP5E gene encodes a protein that is approximately 10 kDa in size and is composed of 92 amino acids. The protein is a subunit of the ATP synthase complex, which is composed of multiple subunits that work together to produce ATP.

Clinical significance

Mutations in the ATP5E gene have been associated with a variety of diseases, including mitochondrial complex V deficiency, a rare genetic disorder that affects the function of mitochondria, the energy-producing structures within cells. Symptoms of this disorder can include muscle weakness, neurological problems, and heart disease.

See also

• ATP synthase
• Mitochondrial complex V deficiency
• Adenosine triphosphate

References

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