PBS pH7.3, 0.02% sodium azide, 50% glycerol.
Store as concentrated solution. Centrifuge briefly prior to opening vial. For short-term storage (1-2 weeks), store at 4ºC. For long-term storage, aliquot and store at -20ºC or below. Avoid multiple freeze-thaw cycles.
Batch dependent (Please refer to the vial label for the specific concentration.)
Recombinant fusion protein containing a sequence corresponding to amino acids 385-684 of human C10orf2 (NP_068602.2).
Purified by affinity chromatography
For laboratory use only. Not for any clinical, therapeutic, or diagnostic use in humans or animals. Not for animal or human consumption.
twinkle mtDNA helicase , ATXN8 , C10orf2 , IOSCA , MTDPS7 , PEO , PEO1 , PEOA3 , PRLTS5 , SANDO , SCA8 , TWINL
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]