POLG

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolPOLG
NameDNA polymerase gamma, catalytic subunit
Typeprotein-coding
Sourcemygene

Summary

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-

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This is an externally resolved entity

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