SLC25A18
SLC25A18 Gene: Master Regulator of Mitochondrial Function
Description
The SLC25A18 gene encodes a protein known as Solute Carrier Family 25 Member 18 (SLC25A18). This protein is a mitochondrial carrier protein responsible for transporting adenosine diphosphate (ADP) and adenosine triphosphate (ATP) across the mitochondrial inner membrane. ADP and ATP are essential energy molecules that play crucial roles in cellular metabolism, including energy production, muscle function, and nerve transmission.
Associated Diseases
Mutations in the SLC25A18 gene have been linked to a rare but devastating neurological disorder called mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). MELAS is characterized by seizures, strokes, muscle weakness, and cognitive impairment.
Other conditions associated with SLC25A18 mutations include:
- Leigh syndrome: A fatal neurodegenerative disorder that affects infants and young children
- Encephalomyopathy, lactic acidosis, and mitochondrial depletion (EMLD): A progressive brain and muscle disease that can lead to seizures, muscle weakness, and intellectual disability
- Mitochondrial myopathy: A muscle disorder that causes weakness, fatigue, and exercise intolerance
Did you Know ?
Approximately 1 in 16,000 individuals worldwide is affected by a mutation in the SLC25A18 gene.
