LongevityMap Gene
Gene details
- HGNC symbol
- TWNK
- Aliases
- PEO; PEO1; SCA8; ATXN8; IOSCA; PEOA3; SANDO; TWINL; MTDPS7; PRLTS5; C10orf2
- Common name
- twinkle mtDNA helicase
- Description
- 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]
- Cytogenetic Location
- 10q24.31
- UCSC Genome Browser
- View 10q24.31 on the UCSC genome browser
- OMIM
- 606075
- Ensembl
- ENSG00000107815
- UniProt/Swiss-Prot
- E5KSY5_HUMAN
- Entrez Gene
- 56652
- UniGene
- 22678
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- F46G11.1
- Danio rerio
- peo1
- Drosophila melanogaster
- mtDNA-helicase
- Mus musculus
- Twnk
- Rattus norvegicus
- Peo1
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Danish
- Study Design
- 592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
- Conclusions
- The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
- Indentifier
- rs3740487
- Reference