POLG(redirected from Mitochondrial DNA polymerase catalytic subunit)
POLGA gene on chromosome 15q25 that encodes the catalytic subunit of mitochondrial DNA polymerase involved in replication of mitochondrial DNA.
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).
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