TWNK twinkle mtDNA helicase

Gene ID: 56652, updated on 5-Mar-2024
Gene type: protein coding
Also known as: PEO; PEO1; SCA8; ATXN8; IOSCA; PEOA3; SANDO; TWINL; MTDPS7; PRLTS5; C10orf2

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Infantile onset spinocerebellar ataxia MedGen: C1849096OMIM: 271245GeneReviews: Infantile-Onset Spinocerebellar Ataxia, Mitochondrial DNA Maintenance Defects Overview	See labs
Perrault syndrome 5 MedGen: C4015307OMIM: 616138GeneReviews: Perrault Syndrome	See labs
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MedGen: C1836439OMIM: 609286GeneReviews: Mitochondrial DNA Maintenance Defects Overview	See labs
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MedGen: C1843851OMIM: 607459GeneReviews: POLG-Related Disorders	See labs

Genomic context

Location:: 10q24.31

Sequence:: Chromosome: 10; NC_000010.11 (100987543..100994403)

Total number of exons:: 5

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for TWNK variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.