POLG
POLG
A gene on chromosome 15q25 that encodes the catalytic subunit of mitochondrial DNA polymerase involved in replication of mitochondrial DNA.Molecular pathology
POLG mutations cause progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS) and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE).