GENE NAME | POLG2 |
CHROMOSOME | 17 |
ENSEMBL ID | ENSG00000256525 |
ENTREZ ID | 11232 |
UNIPROT ACCESSION NUMBER | Q9UHN1 |
GO MOLECULAR FUNCTION | DNA polymerase processivity factor activity; double-stranded DNA binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-1592230; R-HSA-2151201; R-HSA-1852241; R-HSA-1592230; R-HSA-1852241; R-HSA-2151201 |
1 combination linked to POLG2 | OLI331 |
1 variant linked to POLG2 | POLG2:c.714_716del, p.238_239del |
1 disease linked to POLG2 | Amyotrophic lateral sclerosis |