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.
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Pack Size | 100ul, 1ml, 20ul |
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Applications | ELISA, WB |
Host Species | Rabbit |
Ig Isotype | IgG |
Antibody Type | Polyclonal Antibody |
Organism Species | Human |
Product Synonyms | C10orf2 |
Observed Mol Wt | 77kDa |
Alternative Names | PEO; PEO1; SCA8; ATXN8; IOSCA; PEOA3; SANDO; TWINL; MTDPS7; PRLTS5; C10orf2 |
Immunogen (Antigen) | synthetic peptide |
Format | Liquid |
Buffer Formulation | 50% glycerol, PBS with 0.01% thimerosal, pH7.3 |
Reactivity | Mouse |
Uniprot ID | 56652 |
Gene ID | Q96RR1 |
Purification | Antigen-specific affinity chromatography followed by Protein A affinity chromatography |
Usage | For Research Use Only. Not for diagnostics or human use. |
Shelf Life | 12 months at time of shipping |
Shipping | Shipped in Dry Ice at -20 Degree Celsius |
Storage | Store at -20 Degree Celsius. It is recommended to aliquot and store to avoid repeated freeze-thaw as it affects the stability of the antibody. |
Research Areas | Neuroscience |
Disclaimer | The data indicated herein are as indicated and validated in our laboratory. These reagents are for research use only and not for in-vitro diagnostics or human use. |
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