SLC25A31
The SLC25A31 Gene: A Gateway to Understanding Complex Diseases
Description
The SLC25A31 gene, also known as solute carrier family 25 member 31, plays a crucial role in the transport of metabolites across cell membranes. It encodes a protein that facilitates the transport of citrate, an intermediate in the Krebs cycle, from the cytosol into mitochondria. This process is essential for energy production and the regulation of cellular metabolism.
Associated Diseases
Mutations in the SLC25A31 gene have been linked to several human diseases, including:
- Leigh syndrome: A fatal neurodegenerative disorder that primarily affects infants and young children, characterized by progressive loss of motor and cognitive function.
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS): A multi-system disorder that affects the nervous system, muscles, and heart, causing seizures, muscle weakness, and stroke-like episodes.
- Neuroleptic malignant syndrome (NMS): A rare but potentially life-threatening condition that can occur as a side effect of certain antipsychotic medications, characterized by high fever, muscle rigidity, and altered mental status.
- Type 2 diabetes: Emerging evidence suggests that mutations in SLC25A31 may contribute to the development of type 2 diabetes by disrupting mitochondrial function.
Did you Know ?
Approximately 1 in 500,000 individuals worldwide are estimated to carry a pathogenic mutation in the SLC25A31 gene.
