TWNK Chromosome 10
Twinkle mtDNA helicase
Upload your DNA to see your personal genotypes for variants in TWNK.
What This Gene Does
This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]
Gene Info
Gene Group
"Helicases|Mitochondrial nucleoid associated proteins"
Locus Type
gene with protein product
Location
10q24.31
Ensembl
ENSG00000107815
Associated Conditions (25)
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 3
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Hereditary spastic paraplegia
TWNK-related disorder
Perrault syndrome 5
Perrault syndrome
Thymoma
Clear cell carcinoma of kidney
Mitochondrial disease
Ovarian serous cystadenocarcinoma
Familial cancer of breast
Inborn genetic diseases
mitochondrial hepatopathy
Auditory neuropathy
See cases
+5 more conditions
Key Variants
RS11542130
Conflicting classifications of pathogenicity
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy
Health Risk
RS116046810
Conflicting classifications of pathogenicity
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Health Risk
RS137852956
Conflicting classifications of pathogenicity
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Progressive external ophthalmoplegia with mitochondrial DNA deletions
Health Risk
RS139124415
Conflicting classifications of pathogenicity
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Health Risk
RS141315771
Conflicting classifications of pathogenicity
Perrault syndrome, Perrault syndrome
Health Risk
RS1415664013
Conflicting classifications of pathogenicity
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Progressive external ophthalmoplegia with mitochondrial DNA deletions
Health Risk
RS142978552
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia
Health Risk
RS143938897
Conflicting classifications of pathogenicity
Thymoma, Thymoma
Health Risk
RS144001072
Conflicting classifications of pathogenicity
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Health Risk
RS1440229445
Conflicting classifications of pathogenicity
Health Risk
RS145068570
Conflicting classifications of pathogenicity
Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia, Sensory ataxic neuropathy
Health Risk
RS146532064
Conflicting classifications of pathogenicity
Health Risk
All Variants (120)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS672601361 | Health Risk | Pathogenic | Perrault syndrome 5, Perrault syndrome, Perrault syndrome 5 |
| RS779142717 | Health Risk | Pathogenic | Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia |
| RS80356542 | Health Risk | Pathogenic | Infantile onset spinocerebellar ataxia, See cases, Infantile onset spinocerebellar ataxia |
| RS80356543 | Health Risk | Pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy |
| RS80356544 | Health Risk | Pathogenic | Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia |
| RS863223920 | Health Risk | Pathogenic | — |
| RS863223925 | Health Risk | Pathogenic | — |
| RS886037832 | Health Risk | Pathogenic | Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia |
| RS888409241 | Health Risk | Pathogenic | — |
| RS111033573 | Health Risk | Pathogenic/Likely pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Mitochondrial disease |
| RS1159929268 | Health Risk | Pathogenic/Likely pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS1382829987 | Health Risk | Pathogenic/Likely pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS1554887097 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial disease, 8 conditions, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS1564808324 | Health Risk | Pathogenic/Likely pathogenic | Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia |
| RS2133939614 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2133939892 | Health Risk | Pathogenic/Likely pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS267606682 | Health Risk | Pathogenic/Likely pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS758026634 | Health Risk | Pathogenic/Likely pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS80356540 | Health Risk | Pathogenic/Likely pathogenic | Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia |
| RS863223919 | Health Risk | Pathogenic/Likely pathogenic | Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia |