SLC25A4


SLC25A4

A gene on chromosome 4q35 that encodes a mitochondrial solute carrier protein, which functions as a gated pore that translocates ADP from the mitochondrial matrix into the cytoplasm. SLC25A4 forms a homodimer embedded in the inner mitochondria membrane.
Molecular pathology
SLC25A4 mutations cause autosomal dominant progressive external ophthalmoplegia and familial hypertrophic cardiomyopathy.