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 (16.33, 16.53, 16.54)
* Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B (16.33, 16.53, 16.54)
* Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A (16.33, 16.53, 16.54)
SLC25A4
Mitochondrial carrier; adenine nucleotide translocator(M)




4q35
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.33, 16.53, 16.54)
* Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B (16.33, 16.53, 16.54)
* Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A (16.33, 16.53, 16.54)
SLC25A42
Solute carrier family 25 member 42(M)




19p13.11
* Mitochondrial myopathy - (16.57)
* Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - MECREN (16.57)
SLC25A4
Mitochondrial carrier; adenine nucleotide translocator(M)




4q35
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.33, 16.53, 16.54)
* Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B (16.33, 16.53, 16.54)
* Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A (16.33, 16.53, 16.54)
SLC25A42
Solute carrier family 25 member 42(M)




19p13.11
* Mitochondrial myopathy - (16.57)
* Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - MECREN (16.57)
SLC25A46
solute carrier family 25 member 46




5q22.1
* Neuropathy, hereditary motor and sensory, type VIB - HSMN6B (12.80)