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 (DNA Polymerase Gamma, Catalytic Subunit) is a Protein Coding gene. Diseases associated with POLG include Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis and Mitochondrial Dna Depletion Syndrome 4A. Among its related pathways are DNA Damage and Chks in Checkpoint Regulation. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and protease binding.
UniProtKB/Swiss-Prot Summary for POLG Gene
Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA.