| POLG |
| LOCUS ID | 5428 | ||||||||||
| GENE_SYMBOL | POLG | ||||||||||
| GENE NAME | DNA polymerase gamma | ||||||||||
| SYNONYMNS | PEO, MDP1, SCAE, MIRAS. POLG1, POLGA, SANDO, MTDPS4A, MTDPS4B | ||||||||||
| CHROMOSOME | 15 | ||||||||||
| HOMOLOGENE ID | 2016 |
| microRNAs | NA | NA |
| 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- |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Neuropathy | 1. POLG, R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review. | 30941926 |