SUCLA1

SUCLA1 is a gene that provides instructions for making a protein called succinyl-CoA ligase (ADP-forming), beta subunit. This protein is one of the two subunits that make up the enzyme succinyl-CoA synthetase. This enzyme plays a crucial role in the citric acid cycle, also known as the Krebs cycle or TCA cycle. The citric acid cycle is a series of chemical reactions that occur in the mitochondria of cells. It is a central part of cellular respiration, the process by which cells convert glucose and other fuel molecules into adenosine triphosphate (ATP), the main energy currency of the cell. Specifically, the succinyl-CoA synthetase enzyme catalyzes the conversion of succinyl-CoA to succinate, a step that generates guanosine triphosphate (GTP), which is readily converted to ATP.

Mutations in the SUCLA1 gene have been associated with certain metabolic disorders. One such condition is known as methylmalonic acidemia and propionic acidemia (MMA/PA) with or without hyperammonemia, which are inherited disorders that affect the body's ability to process certain proteins and fats. These disorders can lead to a buildup of toxic substances in the blood, which can cause a range of symptoms including developmental delays, seizures, and coma. Research into the precise mechanisms by which SUCLA1 mutations lead to these conditions is ongoing. Understanding the function of the SUCLA1 gene and the protein it encodes is important for diagnosing and potentially treating these rare genetic disorders.