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Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of 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). Two transcript variants encoding the same protein have been found for this gene.
Gene Name: | polymerase (DNA directed), gamma |
Synonyms: | POLG, DNA polymerase gamma, MIRAS, MTDPS4A, PEO, POLG1, POLGA, SANDO, PolG, catalytic subunit, PolG-alpha, SCAE, DNA polymerase subunit gamma-1, MTDPS4B |
Target Sequences: | NM_002693 NP_002684.1 P54098 |
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