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
CELE_F46G11.1
Danio rerio
uncharacterized_F1R9
Drosophila melanogaster
mtDNA-helicase
Mus musculus
Peo1
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