Anti-Twinkle Antibody, clone 13A10.1

Descrição detalhada : Twinkle protein, mitochondrial (EC 3.6.4.12; UniProt Q96RR1; also known as Ataxin 8, Mitochondrial twinkle protein, Progressive external ophthalmoplegia 1 protein, T7 gp4-like protein with intramitochondrial nucleoid localization, T7 helicase-related protein with intramitochondrial nucleoid localization, T7-like mitochondrial DNA helicase) is encoded by the EPO1 (also known as ATXN8, C10orf2, IOSCA, MTDPS7, PEO, PEO1, PEOA3, PRLTS5, SANDO, SCA8, TWINL) gene (Gene ID 56662) in human. Mitochondrial DNA (mtDNA) replication involves the catalytic and accessory subunits of DNA polymerase gamma, the mtDNA helicase Twinkle, the mitochondrial single-stranded DNA-binding protein, and the mitochondrial RNA polymerase. Cells expressing Twinkle mutants accumulate double-stranded mtDNA replication intermediates with loss of RNA associated with the lagging strand, consistent with the role of Twinkle in unwinding double-stranded mtDNA. Mutations in the human Twinkle gene (C10orf2) cause autosomal dominant progressive external ophthalmoplegia (PEO), associated with multiple mtDNA deletions.
Sinónimos : Twinkle protein, mitochondrial, Progressive external ophthalmoplegia 1 protein, T7 gp4-like protein with intramitochondrial nucleoid localization, T7-like mitochondrial DNA helicase, Twinkle
Armazenamento : +2°C to +8°C
Embalagem : 1X1EA