| GENE NAME | POLG |
| CHROMOSOME | 15 |
| ENSEMBL ID | ENSG00000140521 |
| ENTREZ ID | 5428 |
| UNIPROT ACCESSION NUMBER | P54098 |
| GO MOLECULAR FUNCTION | protease binding; protein binding; DNA-directed DNA polymerase activity; DNA binding; chromatin binding; 3'-5' exonuclease activity |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | |
| 7 combinations linked to POLG | OLI1055; OLI131; OLI925; OLI1030; OLI1053; OLI1050; OLI114 |
| 7 variants linked to POLG | POLG:c.2831A>G, p.Glu944Gly; POLG:c.2542G>A, p.Gly848Ser; POLG:c.2554C>T, p.Arg852Cys; POLG:c.2993C>T, p.Ser998Leu; POLG:c.752C>T, p.Thr251Ile; POLG:c.1760C>T, p.Pro587Leu; POLG:c.803G>C, p.Gly268Ala |
| 4 diseases linked to POLG | Primary ovarian failure; Progressive external ophthalmoplegia; Isolated focal cortical dysplasia; Transposition of the great arteries |