POLG2 DNA polymerase gamma 2, accessory subunit
Gene ID: 11232, updated on 10-Dec-2024Gene type: protein coding
Also known as: HP55; POLB; PEOA4; POLGB; MTPOLB; MTDPS16; MTDPS16A; MTDPS16B; POLG-BETA
- See all available tests in GTR for this gene
- Go to complete Gene record for POLG2
- Go to Variation Viewer for POLG2 variants
Summary
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]
Associated conditions
Genomic context
- Location:
- 17q23.3
- Sequence:
- Chromosome: 17; NC_000017.11 (64477785..64497054, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for POLG2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- POLG2 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.