BackgroundThis 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.
DescriptionC10orf2 Polyclonal Antibody. Unconjugated. Raised in: Rabbit.
FormulationBuffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
SpecificityHuman, Mouse, Rat
IsotypeIgG
Uniprot IDQ96RR1
PurificationAffinity Purified
ImmunogenRecombinant fusion protein containing a sequence corresponding to amino acids 135-335 of human C10orf2 (NP_068602.2)
StorageShipped at 4°C. Upon receipt, store at -20°C. Avoid freeze / thaw cycles
Alternative NamesTWNK; ATXN8; C10orf2; IOSCA; MTDPS7; PEO; PEO1; PEOA3; PRLTS5; SANDO; SCA8; TWINL; twinkle mtDNA helicase
ApplicationWB