ATP5F1A

ATP5F1A is a gene that encodes a subunit of ATP synthase, an enzyme that plays a crucial role in the production of adenosine triphosphate (ATP), the primary source of energy for cellular processes. This gene is located on the long arm of chromosome 18 (18q21).

Function

The ATP5F1A gene provides instructions for making a protein that is a part of a larger enzyme called ATP synthase. ATP synthase is found in the mitochondria, the energy-producing centers within cells. This enzyme has several components, and the protein produced from the ATP5F1A gene forms part of the F1 component, also known as the catalytic core. The F1 component is where the energy-storing molecule ATP is produced from adenosine diphosphate (ADP) and inorganic phosphate.

Clinical significance

Mutations in the ATP5F1A gene can lead to mitochondrial diseases, which are a group of disorders caused by dysfunctional mitochondria. These diseases can affect any part of the body, including the cells of the brain, nerves, muscles, kidneys, heart, liver, eyes, ears, or pancreas. The severity of mitochondrial diseases can vary from mild to severe and can occur at any age.

Research

Research is ongoing to better understand the role of ATP5F1A in health and disease. Studies are investigating how mutations in this gene may contribute to mitochondrial diseases and exploring potential therapeutic strategies.

See also

• ATP synthase
• Mitochondrial disease
• Adenosine triphosphate
• Chromosome 18