| Gene Symbol | POLG |
| Entrez Gene ID | 5428 |
| Full Name | DNA polymerase gamma, catalytic subunit |
| Synonyms | MDP1,MIRAS,MTDPS4A,MTDPS4B,PEO,POLG1,POLGA,SANDO,SCAE |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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]. |
| Disorder MIM: | |
| Disorder Html: | Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3); Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3); Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3); Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3) |
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