Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
SLC25A4 Mitochondrial carrier; adenine nucleotide translocator(M)       | 4q35 | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.2, 16.18, 16.19)* Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B (16.2, 16.18, 16.19)* Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A (16.2, 16.18, 16.19) |
SLC25A4 Mitochondrial carrier; adenine nucleotide translocator(M) | 4q35 | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.2, 16.18, 16.19)* Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B (16.2, 16.18, 16.19)* Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A (16.2, 16.18, 16.19) |
SLC25A42 Solute carrier family 25 member 42(M) | 19p13.11 | * Mitochondrial myopathy - (17.38)* Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - MECREN (17.38) |
SLC25A4 Mitochondrial carrier; adenine nucleotide translocator(M) | 4q35 | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.2, 16.18, 16.19)* Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B (16.2, 16.18, 16.19)* Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A (16.2, 16.18, 16.19) |
SLC25A42 Solute carrier family 25 member 42(M) | 19p13.11 | * Mitochondrial myopathy - (17.38)* Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - MECREN (17.38) |
SLC25A46 solute carrier family 25 member 46(M) | 5q22.1 | * Neuropathy, hereditary motor and sensory, type VIB - HSMN6B (12.104) |