靶标：
TWNK
产品别名：
ATXN8； C10orf2； IOSCA； MTDPS7； PEO； PEO1； PEOA3； PRLTS5； SANDO； SCA8； TWINL； TWNK； twinkle mtDNA helicase； twinkle mtDNA helicase； twinkle mtDNA helicase； T7 gp4-like protein with intramitochondrial nucleoid localization； T7 helicase-related protein with intramitochondrial nucleoid localization； T7-like mitochondrial DNA helicase； ataxin 8； progressive external ophthalmoplegia 1 protein； twinkle protein, mitochondrial； Twinkle蛋白(TWINL)； 共济失调蛋白8；
背景信息：
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.
