Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
POLG
Polymerase (DNA directed), gamma(M)




15q25
* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 (13.86, 16.33, 16.39, 16.47, 16.48)
* Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A (13.86, 16.33, 16.39, 16.47, 16.48)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1 (13.86, 16.33, 16.39, 16.47, 16.48)
* Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO (13.86, 16.33, 16.39, 16.47, 16.48)
* spinocerebellar ataxia with epilepsy, included - SCAE (13.86, 16.33, 16.39, 16.47, 16.48)
* Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B (13.86, 16.33, 16.39, 16.47, 16.48)