The slc25a4 gene encodes an ADP/ATP carrier protein localized to the mitochondrial inner membrane, facilitating the exchange of cytosolic ADP for mitochondrially synthesized ATP. This function is docum...[+]

The slc25a4 gene encodes an ADP/ATP carrier protein localized to the mitochondrial inner membrane, facilitating the exchange of cytosolic ADP for mitochondrially synthesized ATP. This function is documented in oocytes and various embryonic and adult tissues. [-]

             Sengers syndrome
             mitochondrial DNA depletion syndrome 12b
             autosomal dominant progressive external ophthalmoplegia 1
             autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2

          PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL
          MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMIN
          MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECES

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