The SLC25A4 gene encodes adenine nucleotide translocase 1 (ANT1), a mitochondrial inner membrane protein belonging to the solute carrier family 25 (SLC25). ANT1 facilitates the exchange of cytosolic ADP and mitochondrial ATP, a critical process for cellular energy metabolism. It is highly expressed in tissues with high energy demands, such as cardiac and skeletal muscle. Dysregulation or mutations in SLC25A4 are linked to mitochondrial disorders, including autosomal dominant progressive external ophthalmoplegia (adPEO), hypertrophic cardiomyopathy, and myopathy, due to impaired nucleotide transport and compromised mitochondrial function.
Antibodies targeting SLC25A4/ANT1 are essential tools for studying its expression, localization, and role in mitochondrial physiology. They are widely used in techniques like Western blotting, immunohistochemistry, and immunofluorescence to assess protein levels in disease models or genetic studies. Research applications include investigating mitochondrial dysfunction in aging, neurodegenerative diseases (e.g., Parkinson’s), and metabolic syndromes. Additionally, since ANT1 interacts with components of the mitochondrial permeability transition pore (mPTP), its antibodies help explore apoptosis mechanisms and therapeutic targets for diseases involving aberrant cell death. Validating antibody specificity is crucial due to homology among ANT isoforms (ANT1-4).