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 have DNA helicase activity and single-stranded DNA binding activity. Predicted to be involved in mitochondrial DNA replication. Predicted to localize to mitochondrion. 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. Is expressed in brain. 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