ATP5J
ATP5J: The Powerhouse Within Mitochondria
Description
ATP5J is a gene that encodes a protein called ATP synthase, subunit j. This protein is a crucial component of the ATP synthase complex, which is located in the inner membrane of mitochondria. The ATP synthase complex is responsible for the production of adenosine triphosphate (ATP), the body's primary source of energy.
ATP5J plays a vital role in oxidative phosphorylation, the process by which the cell generates ATP from glucose. The protein binds to the F0 subunit of the ATP synthase complex, forming a channel that allows protons to flow from the intermembrane space into the mitochondrial matrix. This proton flow drives the rotation of the F1 subunit, which in turn causes the synthesis of ATP.
Associated Diseases
Mutations in the ATP5J gene have been linked to several mitochondrial disorders, including:
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A rare genetic disorder characterized by recurrent episodes of stroke-like symptoms, seizures, and muscle weakness.
- Leigh syndrome: A fatal neurodegenerative disorder that typically affects infants and young children, causing severe brain damage and developmental delays.
- Neuropathy, ataxia, and retinitis pigmentosa (NARP): A progressive neurological disorder characterized by numbness, weakness, and vision loss.
Did you Know ?
Defects in the ATP5J gene account for approximately 3% of all cases of MELAS.
