Gene
polg
- ID
- ZDB-GENE-060303-1
- Name
- polymerase (DNA directed), gamma
- Symbol
- polg Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to have 3'-5' exonuclease activity and DNA-directed DNA polymerase activity. Predicted to be involved in mitochondrial DNA replication. Predicted to localize to mitochondrion. Used to study mitochondrial metabolism disease. Human ortholog(s) of this gene implicated in several diseases, including mitochondrial DNA depletion syndrome (multiple); mitochondrial myopathy (multiple); neurodegenerative disease (multiple); ovarian disease (multiple); and sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Is expressed in exocrine pancreas. Orthologous to human POLG (DNA polymerase gamma, catalytic subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 10 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 2 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Alpers-Huttenlocher syndrome | Alliance | Mitochondrial DNA depletion syndrome 4A (Alpers type) | 203700 |
| autosomal dominant progressive external ophthalmoplegia 1 | Alliance | Progressive external ophthalmoplegia, autosomal dominant 1 | 157640 |
| autosomal recessive progressive external ophthalmoplegia 1 | Alliance | Progressive external ophthalmoplegia, autosomal recessive 1 | 258450 |
| mitochondrial DNA depletion syndrome 4b | Alliance | Mitochondrial DNA depletion syndrome 4B (MNGIE type) | 613662 |
| sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Alliance | Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) | 607459 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| mitochondrial metabolism disease | polgmuz120/muz120 (AB) | standard conditions | Rahn et al., 2015 |
| mitochondrial metabolism disease | polgmuz119/muz119 (AB) | standard conditions | Rahn et al., 2015 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR019760 | DNA-directed DNA polymerase, family A, conserved site |
| Domain | IPR001098 | DNA-directed DNA polymerase, family A, palm domain |
| Domain | IPR041336 | DNA mitochondrial polymerase, exonuclease domain |
| Domain | IPR047580 | DNA polymerase gamma, palm domain |
| Family | IPR002297 | DNA-directed DNA-polymerase, family A, mitochondria |
| Homologous_superfamily | IPR012337 | Ribonuclease H-like superfamily |
| Homologous_superfamily | IPR043502 | DNA/RNA polymerase superfamily |
Domain Details Per Protein
| Protein | Length | DNA-directed DNA polymerase, family A, conserved site | DNA-directed DNA-polymerase, family A, mitochondria | DNA-directed DNA polymerase, family A, palm domain | DNA mitochondrial polymerase, exonuclease domain | DNA polymerase gamma, palm domain | DNA/RNA polymerase superfamily | Ribonuclease H-like superfamily |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F8W5R6
|
1206 |
Interactions and Pathways
No data available
Plasmids
No data available