Although the evolutionary conserved FXC1 encoded protein has not been directly associated with any human diseases, a loss of function mutation in a related component of the mitochondrial hetero-oligomeric translocase complex, TIMM8A, has been linked with the neurodegenerative disorder, Mohr-Tranebjaerg Syndrome [53]. Here, TIMM8A is linked to Mohr-Tranebjaerg syndrome.