POLG DNA polymerase gamma, catalytic subunit
Gene ID: 5428, updated on 17-Jun-2024Gene type: protein coding
Also known as: PEO; MDP1; SCAE; MIRAS; POLG1; POLGA; SANDO; MTDPS4A; MTDPS4B
- See all available tests in GTR for this gene
- Go to complete Gene record for POLG
- Go to Variation Viewer for POLG variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants in the GDF5-UQCC region are associated with variation in human height. GeneReviews: Not available | |
| Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. GeneReviews: Not available | |
| Mitochondrial DNA depletion syndrome 1 | See labs |
| Mitochondrial DNA depletion syndrome 4b | See labs |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 MedGen: C1834846OMIM: 157640GeneReviews: Mitochondrial DNA Deletion Syndromes, POLG-Related Disorders | See labs |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | See labs |
| Progressive sclerosing poliodystrophy MedGen: C0205710OMIM: 203700GeneReviews: POLG-Related Disorders, Mitochondrial DNA Maintenance Defects Overview | See labs |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | See labs |
Genomic context
- Location:
- 15q26.1
- Sequence:
- Chromosome: 15; NC_000015.10 (89316320..89334824, complement)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for POLG variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Human DNA Polymerase Gamma Mutation Database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- POLG database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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