Aliases for POLG Gene
External Ids for POLG Gene
Previous GeneCards Identifiers for POLG Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for POLG Gene
POLG (Polymerase (DNA Directed), Gamma) is a Protein Coding gene. Diseases associated with POLG include mitochondrial dna depletion syndrome 4b and mitochondrial dna depletion syndrome 4a. Among its related pathways are Metabolism and Chks in Checkpoint Regulation. GO annotations related to this gene include chromatin binding and DNA-directed DNA polymerase activity.
UniProtKB/Swiss-Prot for POLG Gene
Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA