TWNK

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]

Description

Twinkle mtDNA helicase

Tissue specificity

Low tissue specificity

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

10 (100987367 - 100994403)

Ensembl ID

ENSG00000107815  (ver. 103.38)

Orthologs

Mouse Twnk: ENSMUSG00000025209

UniProt

Q96RR1

neXtProt

NX_Q96RR1

Human splice variants
Mouse splice variants

Protein structure