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POLG - DNA polymerase gamma, catalytic subunit
- Synonym(s) : POLG1, POLGA
- Previous symbols and names : polymerase (DNA directed), gamma, polymerase (DNA) gamma, catalytic subunit
- Type : gene with protein product
- Chromosomal location : 15q26.1
- OMIM: 174763
- HGNC: 9179
- UniProtKB: P54098
- Genatlas: POLG
- GenCC: POLG
- Ensembl: ENSG00000140521
- IUPHAR-DB: -
- Reactome: P54098
- LOVD: POLG
Diseases list
- Disease-causing germline mutation(s) in Alpers-Huttenlocher syndrome
ORPHA:726 
- Disease-causing germline mutation(s) in Autosomal dominant progressive external ophthalmoplegia
ORPHA:254892 - Disease-causing germline mutation(s) in Autosomal recessive progressive external ophthalmoplegia
ORPHA:254886 - Disease-causing germline mutation(s) in Mitochondrial neurogastrointestinal encephalomyopathy
ORPHA:298 - Disease-causing germline mutation(s) in Recessive mitochondrial ataxia syndrome
ORPHA:94125 - Disease-causing germline mutation(s) in Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
ORPHA:70595 - Disease-causing germline mutation(s) in Spinocerebellar ataxia with epilepsy
ORPHA:254881 - Candidate gene tested in Progressive myoclonic epilepsy type 5
ORPHA:402082
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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