RecName: Full=Twinkle mtDNA helicase; AltName: Full=Progressive extern - Protein

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The N-terminal domain of human mitochondrial helicase Twinkle has DNA-binding activity crucial for supporting processive DNA synthesis by polymerase γ. [J Biol Chem. 2023]
The N-terminal domain of human mitochondrial helicase Twinkle has DNA-binding activity crucial for supporting processive DNA synthesis by polymerase γ.
Johnson LC, Singh A, Patel SS. J Biol Chem. 2023 Jan; 299(1):102797. Epub 2022 Dec 14.
Structural insight and characterization of human Twinkle helicase in mitochondrial disease. [Proc Natl Acad Sci U S A. 2022]
Structural insight and characterization of human Twinkle helicase in mitochondrial disease.
Riccio AA, Bouvette J, Perera L, Longley MJ, Krahn JM, Williams JG, Dutcher R, Borgnia MJ, Copeland WC. Proc Natl Acad Sci U S A. 2022 Aug 9; 119(32):e2207459119. Epub 2022 Aug 1.
Characteristics of globus pallidus internus local field potentials in generalized dystonia patients with TWNK mutation. [Clin Neurophysiol. 2020]
Characteristics of globus pallidus internus local field potentials in generalized dystonia patients with TWNK mutation.
Zhu GY, Zhang RL, Chen YC, Liu YY, Liu DF, Wang SY, Jiang Y, Zhang JG. Clin Neurophysiol. 2020 Jul; 131(7):1453-1461. Epub 2020 Apr 10.

RefSeq genomic sequence
See the genomic reference sequence for the TWNK gene (NG_012624.1).
RefSeq protein isoforms
See 5 reference sequence protein isoforms for the TWNK gene.

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Q96RR1 [Domain Mapping of Disease Mut...]
Q96RR1
Domain Mapping of Disease Mutations
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Protein