ATP5MC1

ATP5MC1 is a human gene that encodes a subunit of ATP synthase, also known as F1F0-ATPase. ATP synthase is a protein complex located in the inner mitochondrial membrane responsible for producing adenosine triphosphate (ATP), the primary energy currency of the cell, through oxidative phosphorylation.

Specifically, ATP5MC1 encodes subunit c, isoform 1 of the ATP synthase membrane subunit. This subunit is a component of the F0 portion of the enzyme, which is embedded in the mitochondrial membrane and acts as a proton channel. Protons flow through this channel, driven by the electrochemical gradient established by the electron transport chain. This flow of protons drives the rotation of the F0 complex, which in turn drives the synthesis of ATP by the F1 portion of the enzyme.

The ATP5MC1 gene is located on chromosome 10 (10q23.31). Mutations in genes encoding ATP synthase subunits, including ATP5MC1, have been associated with various mitochondrial disorders affecting energy production, and can result in a range of symptoms depending on the specific mutation and its impact on enzyme function. These disorders can affect various tissues and organs, particularly those with high energy demands, such as the brain, muscles, and heart. Research continues to explore the precise roles and interactions of ATP synthase subunits and the mechanisms by which mutations lead to disease.