Gene
twnk
- ID
- ZDB-GENE-030131-5569
- Name
- twinkle mtDNA helicase
- Symbol
- twnk Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable DNA helicase activity and single-stranded DNA binding activity. Predicted to be involved in mitochondrial DNA replication. Predicted to act upstream of or within DNA replication. Predicted to be active in mitochondrion. Is expressed in brain. Human ortholog(s) of this gene implicated in Perrault syndrome; autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3; chronic progressive external ophthalmoplegia; and mitochondrial DNA depletion syndrome 7. Orthologous to human TWNK (twinkle mtDNA helicase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | Alliance | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 609286 |
| mitochondrial DNA depletion syndrome 7 | Alliance | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | 271245 |
| Perrault syndrome 5 | 616138 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Archaeal primase DnaG/twinkle-like, TOPRIM domain | DNA helicase, DnaB-like, C-terminal | P-loop containing nucleoside triphosphate hydrolase | Twinkle-like protein |
|---|---|---|---|---|---|
|
UniProtKB:A0A0R4ICC1
|
728 |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance