TMX2
Description
TMX2 is a gene that encodes a protein essential for mitochondrial function. It plays a crucial role in the assembly and stability of respiratory chain complexes, which are vital for cellular energy production. Mutations in TMX2 can disrupt this process, leading to a range of mitochondrial disorders. These disorders often manifest as neurological and muscular problems, reflecting the widespread dependence of cells on mitochondrial energy.
Associated Diseases
- Mitochondrial complex I deficiency
- Leigh syndrome
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
- Neurological disorders with mitochondrial dysfunction
Did you know?
TMX2 is located on chromosome 14, a region often associated with genetic diseases.
