SLC25A6 encodes the mitochondrial ADP/ATP antiporter (also known as adenine nucleotide translocase 3), a critical membrane protein mediating bidirectional transport across the inner mitochondrial membrane 1. The protein functions through an alternating access mechanism, importing ADP into the mitochondrial matrix for ATP synthesis and exporting ATP to fuel cytoplasmic processes 2. Beyond its primary antiporter activity, SLC25A6 participates in mitochondrial uncoupling by transporting protons, which reduces ATP production efficiency and generates thermogenesis, with these activities regulated in balance to control mitochondrial energy output 3. SLC25A6 also plays a key role in mitochondrial permeability transition pore (mPTP) opening, a process contributing to cell death 2. Clinically, SLC25A6 dysfunction has pathological implications in muscular dystrophy and cancer 1. Recent evidence demonstrates that SLC25A6 dosage inversely correlates with QTc interval duration in cardiac function, indicating its contribution to cardiac electrophysiology 4. Additionally, reduced SLC25A6 expression has been associated with oxidative stress compensation in neurodegenerative diseases including Alzheimer's and Parkinson's disease 5. As an X/Y pseudoautosomal gene, SLC25A6 shows tissue-specific expression patterns regulated by sex chromosome X|Y 6.
No tissue expression data available for this gene.