Anti-Twinkle/TWNK Antibody Picoband® Biotin Conjugated

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.

TWNK; C10orf2; PEO1; Twinkle protein, mitochondrial; EC 3.6.4.12; Progressive external ophthalmoplegia 1 protein; T7 gp4-like protein with intramitochondrial nucleoid localization; T7-like mitochondrial DNA helicase; Twinkle mtDNA helicase

E.coli-derived human Twinkle/TWNK recombinant protein (Position: R39-K635) . Human Twinkle/TWNK shares 87.8% amino acid (aa) sequence identity with mouse Twinkle/TWNK.