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POLG DNA polymerase gamma, catalytic subunit

Also known as: PEO; MDP1; SCAE; MIRAS; POLG1; POLGA; SANDO; MTDPS4A; MTDPS4B

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, Jul 2008]

Genomic context

Location:
15q26.1
Sequence:
Chromosome: 15; NC_000015.10 (89316305..89334795, complement)
Total number of exons:
23

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