SLC25A34
SLC25A34 Gene: A Critical Gatekeeper of Nutrient Transport
Description
The slc25a34 gene encodes a mitochondrial protein called solute carrier family 25, member 34 (SLC25A34). This protein is located in the inner mitochondrial membrane and functions as a transporter, enabling the movement of metabolites, coenzymes, and ions across the membrane. SLC25A34 is crucial for maintaining mitochondrial homeostasis and energy metabolism.
Associated Diseases
Mutations in the slc25a34 gene have been linked to several rare genetic disorders:
- Leigh Syndrome: A severe neurodegenerative disorder characterized by delayed psychomotor development, progressive brain damage, and respiratory failure.
- Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS): A multi-system disorder affecting the brain, muscles, and heart, resulting in stroke-like episodes, lactic acidosis, and muscle weakness.
- Wolfram Syndrome: A complex disorder involving diabetes mellitus, optic atrophy, sensorineural hearing loss, and psychiatric symptoms.
Did you Know ?
Mutations in the slc25a34 gene are estimated to be responsible for approximately 1% of cases of Leigh Syndrome, making it one of the more common genetic causes of this disorder.
