Entrez gene ID | | 5428 |
Official gene symbol | | POLG |
Full name | | polymerase (DNA directed), gamma |
Aliases | | ,FLJ27114,MDP1,PEO,POLG1,POLGA,SANDO,SCAE, |
Gene 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-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] |
Location | | Chromosome: 15 Locus: 15q25 |
Gene position | | 89878026 - 89859536 Map Viewer |
Gene orientation | | minus |
Gene size | | 18491 bp |
Gene sequence |
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OMIM ID | | 174763 |
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