ATP5B
ATP5B: The Energy-Producing Machine Behind Cellular Functions
Introduction:
ATP5B, also known as the ATP synthase beta subunit, is a critical protein involved in energy production within cells. It forms part of the mitochondrial inner membrane and is essential for the generation of adenosine triphosphate (ATP), the primary energy currency of the cell.
Description:
ATP5B is a membrane-bound protein consisting of a long, hydrophobic transmembrane domain that anchors it to the mitochondrial inner membrane. It also has a hydrophilic domain that projects into the mitochondrial matrix and interacts with other components of the ATP synthase complex. The molecular weight of ATP5B is approximately 56 kDa.
Associated Diseases:
Mutations in the ATP5B gene have been linked to several diseases, including:
- Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS): A disorder characterized by seizures, strokes, and lactic acidosis due to impaired energy production.
- Mitochondrial Encephalopathy, Leigh Syndrome, and Subacute Necrotizing Encephalomyelopathy (LFSN): A severe neurodegenerative disorder leading to developmental delay, seizures, and premature death.
- Kearns-Sayre Syndrome (KSS): A multi-system disorder affecting the eyes, muscles, and brain caused by mutations in the mitochondrial genome.
Did you Know ?
ATP5B is a highly conserved protein across species, indicating its fundamental importance in cellular metabolism. Approximately 5-10% of all ATP produced in the cell is used for the synthesis of ATP5B, highlighting its central role in energy production.
