POLG2 Chromosome 17
DNA polymerase gamma 2, accessory subunit
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What This Gene Does
This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]
Gene Info
Gene Group
DNA polymerases
Locus Type
gene with protein product
Location
17q23.3
Ensembl
ENSG00000256525
Associated Conditions (9)
Hereditary spastic paraplegia
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 4
Colorectal cancer
POLG2-related disorder
Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
Mitochondrial DNA depletion syndrome 16 (hepatic type)
Acute liver failure
Mitochondrial DNA depletion syndrome 16A
Key Variants
RS1064794586
Conflicting classifications of pathogenicity
Health Risk
RS137901677
Conflicting classifications of pathogenicity
Health Risk
RS139282177
Conflicting classifications of pathogenicity
Health Risk
RS142121495
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia
Health Risk
RS143660836
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia
Health Risk
RS144148008
Conflicting classifications of pathogenicity
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, Colorectal cancer
Health Risk
RS146504115
Conflicting classifications of pathogenicity
POLG2-related disorder, POLG2-related disorder
Health Risk
RS148101254
Conflicting classifications of pathogenicity
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, Hereditary spastic paraplegia
Health Risk
RS148941150
Conflicting classifications of pathogenicity
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
Health Risk
RS1555667383
Conflicting classifications of pathogenicity
Health Risk
RS1555668353
Conflicting classifications of pathogenicity
Health Risk
RS1555668382
Conflicting classifications of pathogenicity
Health Risk
All Variants (53)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS782472762 | Health Risk | Pathogenic | — |
| RS1316363979 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1555669548 | Health Risk | Pathogenic/Likely pathogenic | POLG2-related disorder, POLG2-related disorder |