Orphanet: twinkle mtDNA helicase
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TWNK - twinkle mtDNA helicase

  • Synonym(s) : FLJ21832, PEO, PEO1, T7 helicase-related protein with intramitochondrial nucleoid localization, TWINKLE, TWINL
  • Previous symbols and names : C10orf2, IOSCA, chromosome 10 open reading frame 2, infantile onset spinocerebellar ataxia (autosomal recessive)
  • Type : gene with protein product
  • Chromosomal location : 10q24.31
  • OMIM: 606075
  • HGNC: 1160
  • UniProtKB: Q96RR1
  • Genatlas: C10orf2
  • Ensembl: ENSG00000107815
  • IUPHAR-DB: -
  • Reactome: Q96RR1
  • LOVD: TWNK

Diseases list

  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test


Additional information

Health care resources for this gene

Specialised Social Services

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