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Antibody detects endogenous levels of total POLG1.
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.
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Protein Aliases: 3'-5' exodeoxyribonuclease; 5'-deoxyribose-phosphate lyase; DNA polymerase gamma; DNA polymerase gamma subunit 1 (Mitochondrial DNA polymerase catalytic subunit) (PolG-alpha); DNA polymerase subunit gamma-1; DNA-directed DNA polymerase gamma; FLJ27114; Mitochondrial DNA polymerase catalytic subunit; mitochondrial DNA polymerase gamma; mitochondrial DNA polymerase gamma catalytic subunit; mitochondrial DNA polymerase-gamma; mitochondrial polymerase gamma; Pol gamma; PolG-alpha; polymerase (DNA directed), gamma; polymerase (DNA) gamma, catalytic subunit; polymerase, gamma; truncated mitochondrial DNA polymerase gamma catalytic subunit
Gene Aliases: AA409516; MDP1; Mip1; MIRAS; MTDPS4A; MTDPS4B; PEO; POLG; POLG1; POLGA; SANDO; SCAE
UniProt ID: (Human) P54098, (Rat) Q9QYV8
Entrez Gene ID: (Human) 5428, (Mouse) 18975, (Rat) 85472
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