ATP5I
ATP5I: The Powerhouse of the Ribosome
Description
ATP5I, also known as ATP synthase subunit i, is a crucial protein complex that plays a pivotal role in cellular energy production. It is an integral component of the mitochondrial ATP synthase, an enzyme responsible for synthesizing adenosine triphosphate (ATP), the primary energy currency of cells.
ATP5I is located in the inner mitochondrial membrane and forms a rotating assembly known as the F0-F1 complex. The F0 subunit consists of a proton channel that allows protons to flow down the electrochemical gradient, while the F1 subunit contains the ATP synthesis machinery.
When protons pass through the F0 subunit, they drive the rotation of the F1 subunit, which in turn causes the production of ATP from ADP and inorganic phosphate. This process is essential for supplying cells with the energy they need to perform vital functions.
Associated Diseases
Mutations in the ATP5I gene have been linked to several inherited mitochondrial disorders, including:
- Leigh syndrome: A severe neurodegenerative disorder characterized by impaired brain development, lactic acidosis, and seizures.
- Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS): A multisystem disorder that affects the nervous system, muscles, and heart, causing seizures, strokes, and developmental delays.
- Kearns-Sayre syndrome: A rare disorder that affects the eyes, heart, and muscles, leading to progressive vision loss, hearing impairment, and muscle weakness.
Did you Know ?
ATP5I is the most commonly mutated gene in mitochondrial disorders, accounting for approximately 10-20% of cases.
