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. Is expressed in exocrine pancreas. 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. Orthologous to human POLG (DNA polymerase gamma, catalytic subunit).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
10 figures from 8 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
13 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With polg Human Ortholog
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
Associated With polg Via Experimental Models
Gene Ontology
Protein Domains
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
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/RNA polymerase superfamily Ribonuclease H-like superfamily
UniProtKB:F8W5R6 1206
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-polg Rabbit
  • WB
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations