POLG Chromosome 15
DNA polymerase gamma, catalytic subunit
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What This Gene Does
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]
Gene Info
Gene Group
"DNA polymerases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
15q26.1
Ensembl
ENSG00000140521
Associated Conditions (57)
Progressive sclerosing poliodystrophy
POLG-related disorder
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 1
autosomal recessive 1
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Inborn genetic diseases
Mitochondrial DNA depletion syndrome 1
Global developmental delay
Tip-toe gait
Abnormality of the nervous system
Mitochondrial disease
Hypertrophic cardiomyopathy
Hereditary spastic paraplegia
See cases
Mitochondrial DNA depletion syndrome
6 conditions
+37 more conditions
Key Variants
RS1001570418
Conflicting classifications of pathogenicity
Progressive sclerosing poliodystrophy, POLG-related disorder, Progressive sclerosing poliodystrophy
Health Risk
RS1003442806
Conflicting classifications of pathogenicity
Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
Health Risk
RS1024469208
Conflicting classifications of pathogenicity
Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
Health Risk
RS1032930719
Conflicting classifications of pathogenicity
Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Health Risk
RS1057520997
Conflicting classifications of pathogenicity
Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
Health Risk
RS1057521589
Conflicting classifications of pathogenicity
Progressive sclerosing poliodystrophy, POLG-related disorder, Progressive sclerosing poliodystrophy
Health Risk
RS1057523710
Conflicting classifications of pathogenicity
Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
Health Risk
RS1057524724
Conflicting classifications of pathogenicity
Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
Health Risk
RS1064794213
Conflicting classifications of pathogenicity
Progressive sclerosing poliodystrophy, Inborn genetic diseases, Progressive sclerosing poliodystrophy
Health Risk
RS1064795981
Conflicting classifications of pathogenicity
Inborn genetic diseases, Progressive sclerosing poliodystrophy, Inborn genetic diseases
Health Risk
RS1064797202
Conflicting classifications of pathogenicity
POLG-related disorder, POLG-related disorder
Health Risk
RS113994094
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Health Risk
All Variants (543)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2509261166 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy |
| RS2509262236 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy |
| RS2509265618 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy |
| RS2509274602 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy |
| RS2509276392 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy |
| RS2509277006 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy |
| RS2509277695 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy |
| RS267606959 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome |
| RS3176179 | Health Risk | Pathogenic | POLG-related disorder, Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy |
| RS369549749 | Health Risk | Pathogenic | POLG-related disorder, POLG-related disorder |
| RS749799663 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy |
| RS750514687 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy |
| RS759284625 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy |
| RS763418954 | Health Risk | Pathogenic | — |
| RS767708989 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Mitochondrial disease, Progressive sclerosing poliodystrophy |
| RS769827124 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 |
| RS770115219 | Health Risk | Pathogenic | — |
| RS771623994 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria |
| RS774474723 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy |
| RS778115255 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy |
| RS778573169 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Inborn genetic diseases, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS780953863 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Tip-toe gait, Progressive sclerosing poliodystrophy |
| RS796052887 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria |
| RS796052891 | Health Risk | Pathogenic | — |
| RS796052907 | Health Risk | Pathogenic | — |
| RS796052908 | Health Risk | Pathogenic | Global developmental delay, Obesity, Generalized epilepsy |
| RS867038717 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria |
| RS886041592 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, 6 conditions, Progressive sclerosing poliodystrophy |
| RS960142425 | Health Risk | Pathogenic | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy |
| RS1010372555 | Health Risk | Pathogenic/Likely pathogenic | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy |
| RS1057517891 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Progressive sclerosing poliodystrophy, Inborn genetic diseases |
| RS1057518035 | Health Risk | Pathogenic/Likely pathogenic | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy |
| RS1064793800 | Health Risk | Pathogenic/Likely pathogenic | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy |
| RS1064794735 | Health Risk | Pathogenic/Likely pathogenic | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy |
| RS113994097 | Health Risk | Pathogenic/Likely pathogenic | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
| RS113994099 | Health Risk | Pathogenic/Likely pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Mitochondrial disease |
| RS1159974816 | Health Risk | Pathogenic/Likely pathogenic | Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria |
| RS121918044 | Health Risk | Pathogenic/Likely pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy |
| RS121918051 | Health Risk | Pathogenic/Likely pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive sclerosing poliodystrophy |
| RS121918056 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy, Abnormality of corpus callosum |
| RS1252078081 | Health Risk | Pathogenic/Likely pathogenic | Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria |
| RS1253517114 | Health Risk | Pathogenic/Likely pathogenic | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS1282521429 | Health Risk | Pathogenic/Likely pathogenic | Progressive sclerosing poliodystrophy, POLG-related disorder, Progressive sclerosing poliodystrophy |
| RS1326779034 | Health Risk | Pathogenic/Likely pathogenic | Progressive sclerosing poliodystrophy, 6 conditions, Progressive sclerosing poliodystrophy |
| RS1356604153 | Health Risk | Pathogenic/Likely pathogenic | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS139562274 | Health Risk | Pathogenic/Likely pathogenic | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy, Inborn genetic diseases |
| RS142347031 | Health Risk | Pathogenic/Likely pathogenic | Progressive sclerosing poliodystrophy, POLG-related disorder, Sensory ataxic neuropathy |
| RS1466226819 | Health Risk | Pathogenic/Likely pathogenic | Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 |
| RS1483201828 | Health Risk | Pathogenic/Likely pathogenic | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy |
| RS1555452453 | Health Risk | Pathogenic/Likely pathogenic | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy |