ATP5C1
Title: ATP5C1: A Mitochondrial Protein with Implications in Health and Disease
Description
ATP5C1 is a mitochondrial protein that plays a crucial role in energy production within cells. It is a component of the mitochondrial ATP synthase complex, which is responsible for synthesizing adenosine triphosphate (ATP), the primary energy currency of cells. ATP5C1 is essential for maintaining cellular homeostasis and supporting various biological processes.
Associated Diseases
Mutations in the ATP5C1 gene have been linked to several human diseases, highlighting its importance in maintaining metabolic health:
- Congenital lactic acidosis: A rare disorder characterized by an impaired ability to produce energy, leading to a buildup of lactic acid in the body.
- Mitochondrial encephalopathy: A neurological condition affecting the brain, causing a range of symptoms such as seizures, muscle weakness, and intellectual disability.
- Cardiomyopathy: A disease of the heart muscle, often associated with impaired mitochondrial function.
- Diabetes mellitus: Type 1 and type 2 diabetes have been associated with genetic variations in ATP5C1, suggesting its involvement in glucose metabolism.
Did you Know ?
ATP5C1 mutations are estimated to affect approximately 1 in 50,000 individuals worldwide, underscoring the prevalence of genetic variants in this gene and the potential impact it has on human health.
