ATPAF1

ATPAF1 is a gene that encodes a protein involved in the assembly of ATP synthase, a key enzyme in the process of cellular respiration. This protein is essential for the proper functioning of cells, particularly in the production of adenosine triphosphate (ATP), the main source of cellular energy.

Function

The ATPAF1 protein is a component of the mitochondrial ATP synthase, also known as Complex V. This complex is responsible for the final step of oxidative phosphorylation, in which the energy derived from the electron transport chain is used to convert adenosine diphosphate (ADP) into ATP. ATPAF1 is involved in the assembly of the ATP synthase complex, ensuring that all the necessary components are correctly arranged for optimal function.

Clinical significance

Mutations in the ATPAF1 gene have been associated with a number of medical conditions. These include mitochondrial disease, a group of disorders caused by dysfunction in the mitochondria, and cardiomyopathy, a disease of the heart muscle that can lead to heart failure. Research is ongoing to better understand the role of ATPAF1 in these and other conditions.

See also

• ATP synthase
• Mitochondrial disease
• Cardiomyopathy

References

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