Synonyms: ATXN8; FLJ21832; IOSCA; PEO; PEO1; PEOA3; SANDO; SCA8; TWINL
Storage: -20C
UNSPSC Code: 12352203
Features and Benefits: Antibody BioguaranteeEvaluate our antibodies with complete peace of mind. If the antibody does not perform in your application, we will issue a full credit or replacement antibody. Learn more.
General description: 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
Immunogen: PEO1 (NP_068602.2, 591 a.a. ~ 684 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.SequenceDRKLVTGPGKRYLQVSKNRFDGDVGVFPLEFNKNSLTFSIPPKNKARLKKIKDDTGPVAKKPSSGKKGATTQNSEICSGQAPTPDQPDTSKRSK
Physical form: Solution in phosphate buffered saline, pH 7.4
RIDADR: NONH for all modes of transport
WGK Germany: 3