SLC25A13

SLC25A13 is a gene in humans that encodes the protein known as the aspartate/glutamate carrier 2 (AGC2). This protein is a member of the solute carrier family 25 (SLC25), which comprises various mitochondrial transporters responsible for the exchange of metabolites across the mitochondrial inner membrane.

The primary function of the SLC25A13 gene product is to facilitate the export of aspartate from the mitochondria to the cytoplasm and the import of glutamate into the mitochondria. This process is essential for the urea cycle, amino acid metabolism, and the production of energy through mitochondrial pathways. Proper functioning of AGC2 is crucial for maintaining cellular nitrogen balance and metabolic homeostasis.

Mutations in the SLC25A13 gene have been associated with certain metabolic disorders. Notably, defects in this gene cause citrin deficiency, which can manifest as neonatal intrahepatic cholestasis, failure to thrive, and adult-onset type II citrullinemia. These conditions are characterized by impaired ammonia detoxification and disrupted urea cycle function, leading to hyperammonemia.

The gene is located on chromosome 7q21.3, encompassing a significant portion of genetic material involved in metabolic regulation. Research into SLC25A13 continues to reveal its vital role in cellular metabolism and its potential as a target for therapeutic intervention in related metabolic disorders. Understanding its function and associated mutations provides insight into certain inherited liver and metabolic diseases.