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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for POLG (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID5428
Official gene symbolPOLG
Full namepolymerase (DNA directed), gamma
Aliases,FLJ27114,MDP1,PEO,POLG1,POLGA,SANDO,SCAE,
Gene summaryMitochondrial 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]
LocationChromosome: 15   Locus: 15q25
Gene position89878026 - 89859536  Map Viewer
Gene orientationminus
Gene size18491 bp
Gene sequence
OMIM ID174763