SUCLA2 : succinate-CoA ligase ADP-forming subunit beta
Description
The SUCLA2 gene provides instructions for making a protein called succinyl-CoA ligase, a crucial enzyme involved in the citric acid cycle, a vital metabolic pathway responsible for generating energy within cells. This cycle breaks down carbohydrates, fats, and proteins to produce ATP, the cell‘s energy currency. SUCLA2 specifically catalyzes the conversion of succinate to succinyl-CoA, a step essential for the continuous operation of the citric acid cycle. Defects in SUCLA2 can disrupt this vital process, leading to various health complications.
Associated Diseases
Did you know?
Mutations in SUCLA2 are often associated with Leigh syndrome, a severe neurological disorder characterized by progressive brain damage. The condition is typically diagnosed in early infancy, with symptoms including seizures, developmental delays, and muscle weakness.
