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Immunogen sequence: FVKGTMKDIR ENFQDLMQYC AQDVWATHEV FQQQLPLFLE RCPHPVTLAG MLEMGVSYLP VNQNWERYLA EAQGTYEELQ REMKKSLMD
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 3'-5' exodeoxyribonuclease; 5'-deoxyribose-phosphate lyase; DNA polymerase subunit gamma-1; FLJ27114; Mitochondrial DNA polymerase catalytic subunit; mitochondrial DNA polymerase gamma catalytic subunit; PolG-alpha; polymerase (DNA directed), gamma; polymerase (DNA) gamma, catalytic subunit; truncated mitochondrial DNA polymerase gamma catalytic subunit
Gene Aliases: MDP1; MIRAS; MTDPS4A; MTDPS4B; PEO; POLG; POLG1; POLGA; SANDO; SCAE
UniProt ID: (Human) P54098
Entrez Gene ID: (Human) 5428
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