POLG

(redirected from PolG, catalytic subunit)

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).