Identity
HGNC
LOCATION
10q24.31
LOCUSID
ALIAS
ATXN8,C10orf2,IOSCA,MTDPS7,PEO,PEO1,PEOA3,PRLTS5,SANDO,SCA8,TWINL
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 56652
MIM: 606075
HGNC: 1160
Ensembl: ENSG00000107815
Variants:
dbSNP: 56652
ClinVar: 56652
TCGA: ENSG00000107815
COSMIC: TWNK
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36528058 | 2023 | The N-terminal domain of human mitochondrial helicase Twinkle has DNA-binding activity crucial for supporting processive DNA synthesis by polymerase γ. | 2 |
| 36528058 | 2023 | The N-terminal domain of human mitochondrial helicase Twinkle has DNA-binding activity crucial for supporting processive DNA synthesis by polymerase γ. | 2 |
| 35914129 | 2022 | Structural insight and characterization of human Twinkle helicase in mitochondrial disease. | 6 |
| 35914129 | 2022 | Structural insight and characterization of human Twinkle helicase in mitochondrial disease. | 6 |
| 33847968 | 2021 | Stimulation of Variant Forms of the Mitochondrial DNA Helicase Twinkle by the Mitochondrial Single-Stranded DNA-Binding Protein. | 0 |
| 33847968 | 2021 | Stimulation of Variant Forms of the Mitochondrial DNA Helicase Twinkle by the Mitochondrial Single-Stranded DNA-Binding Protein. | 0 |
| 32161153 | 2020 | Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia. | 15 |
| 32213598 | 2020 | Single-molecule level structural dynamics of DNA unwinding by human mitochondrial Twinkle helicase. | 9 |
| 32387964 | 2020 | Characteristics of globus pallidus internus local field potentials in generalized dystonia patients with TWNK mutation. | 4 |
| 33087282 | 2020 | Consequences of compromised mitochondrial genome integrity. | 22 |
| 33396418 | 2020 | Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation. | 1 |
| 32161153 | 2020 | Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia. | 15 |
| 32213598 | 2020 | Single-molecule level structural dynamics of DNA unwinding by human mitochondrial Twinkle helicase. | 9 |
| 32387964 | 2020 | Characteristics of globus pallidus internus local field potentials in generalized dystonia patients with TWNK mutation. | 4 |
| 33087282 | 2020 | Consequences of compromised mitochondrial genome integrity. | 22 |
Citation
Dessen P
TWNK (twinkle mtDNA helicase)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56615/gene-fusions-explorer/new-content/
