Twinkle mtDNA helicase (TWNK)
Homo sapiens — UniProt Q96RR1
Data last refreshed: (UniProt release unknown)
Key facts
Twinkle mtDNA helicase (TWNK) is a protein from Homo sapiens identified by UniProt accession Q96RR1, 684 residues long. MolForge cross-references it against 0 known binders and 135 disease associations.
- UniProt accession: Q96RR1; gene symbol TWNK.
- Organism: Homo sapiens.
- Length: 684 amino acids.
- Top disease associations (Open Targets): progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, mitochondrial DNA depletion syndrome 7 (hepatocerebral type) and Perrault syndrome 5.
- 3D structure: AlphaFold model available.
Target properties
| Protein name | Twinkle mtDNA helicase |
|---|---|
| UniProt accession | Q96RR1 |
| Gene | TWNK |
| Organism | Homo sapiens |
| Length | 684 residues |
| Molecular weight | — |
| EC numbers | — |
| Target class | — |
| Subcellular location | — |
| Keywords | — |
Druggability
Target tractability assessment (Open Targets + pocket analysis). No approved drug
| Druggability tier | MEDIUM |
|---|---|
| Druggability score | — |
| Pocket score | — |
| Max clinical phase | — |
Disease associations (135)
Diseases linked to this target (Open Targets).
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 · score 0.82
- mitochondrial DNA depletion syndrome 7 (hepatocerebral type) · score 0.81
- Perrault syndrome 5 · score 0.76
- mitochondrial disease · score 0.51
- progressive external ophthalmoplegia with mitochondrial DNA deletions · score 0.41
- autosomal dominant progressive external ophthalmoplegia · score 0.38
- Perrault syndrome 2 · score 0.37
- mitochondrial DNA depletion syndrome, hepatocerebrorenal form · score 0.37
- Perrault syndrome 1 · score 0.37
- lamellar ichthyosis · score 0.34
3D Structure (1)
Experimental (PDB) and predicted (AlphaFold) structures for this protein.
| Structure | Source | Method | Mean pLDDT | Resolution (Å) |
|---|---|---|---|---|
| AF-Q96RR1-F1 | alphafold | PREDICTED | 78.22 | — |
Experimental structures are not indexed in MolForge yet — search RCSB PDB for Q96RR1.
Amino-acid sequence (684 residues)
Frequently asked questions
Answers are generated from the structured data on this page, not written by hand.
Which diseases are associated with TWNK?
The strongest Open Targets associations for TWNK are progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, mitochondrial DNA depletion syndrome 7 (hepatocerebral type), Perrault syndrome 5, mitochondrial disease and progressive external ophthalmoplegia with mitochondrial DNA deletions.
How long is the TWNK protein?
The Homo sapiens TWNK protein (UniProt Q96RR1) is 684 amino acids long.
Browse: Targets: T · all protein targets A–Z · drugs A–Z.
Sources
- UniProtKB Q96RR1 — name, gene, function, sequence, keywords (CC BY 4.0)
- AlphaFold DB Q96RR1 — predicted 3D structure (CC BY 4.0)
- Open Targets Platform — disease associations and tractability (CC0)
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