Twinkle mtDNA Helicase

Alternative Names

  • TWNK
  • Chromosome 10 Open Reading Frame 2
  • C10ORF2
  • T7 Gene 4-Like Protein with Intramitochondrial Nucleoid Localization
  • Twinkle
  • p72
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OMIM Number

606075

NCBI Gene ID

56652

Uniprot ID

Q96RR1

Length

7,037 bases

No. of Exons

5

No. of isoforms

3

Protein Name

Twinkle protein, mitochondrial

Molecular Mass

77154 Da

Amino Acid Count

684

Genomic Location

chr10:100,987,367-100,994,403

Gene Map Locus
10q24.31

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_021830.5:c.1003C>ALebanonchr10:100989213Likely PathogenicLikely PathogenicMitochondrial DNA Depletion Syndrome 7 (Hepatocerebral Type)NC_000010.11:g.100989213C>A; NM_021830.5:c.1003C>A; NP_068602.2:p.Pro335Thr1554887028426102
NM_021830.5:c.1198C>TUnited Arab EmiratesNC_000010.11:g.100989408C>TLikely PathogenicMitochondrial DNA Depletion Syndrome 7 (Hepatocerebral Type)NG_012624.1:g.6873C>T; NM_021830.5:c.1198C>T; NP_068602.2:p.Arg400Cys757068910
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