- Antibody type:Primary
- Antigen name:Ataxin 8
- Antigen symbol:ATXN8
- Clonality:Polyclonal
- Conjugation:HRP (Horseradish Peroxidase)
- Host:Rabbit
- ImmunoChemistry:Yes
- Isotype:IgG
- Reactivity:Human,Rat,Mouse
- Western blot:Yes
- Cross adsorption:No
- Form:liquid
- Antigen synonyms:SCA8|T7 like mitochondrial DNA helicase|IOSCA|PEOA3|Ataxin 8|Progressive external ophthalmoplegia 1 protein|C10orf2|Twinkle protein|SCA 8|SANDO|PEO 1|mitochondrial|Ataxin8|TWINL.|ATXN 8|PEO|ATXN8|PEO1|C10 orf2|T7 gp4 like protein with intramitochondrial nucleoid localization|Chromosome 10 open reading frame 2|C10orf 2
- Storage buffer:Aqueous buffered solution containing 100ug/ml BSA, 50% glycerol and 0.09% Gentamicin. Store at 4°C for 12 months.
- Storage temperature:Store at 4°C for 12 months
- Concentration:1 μg/μl
- Shipping temperature:4°C
- Purification:Purified by Protein A
- Pk:100 µl
Twinkle, also known as PEO1 (Progressive external ophthalmoplegia 1 protein), PEOA3, SANDO or TWINL, is a mitochondrial protein that functions as a 5’-3’ nucleotide-dependent DNA helicase. Colocalized with mtDNA (mitochondrial DNA) in mitochondrial nucleoids, Twinkle is important in the metabolism and maintenance of mtDNA, playing a crucial role in the regulation of mtDNA copy numbers. Twinkle is expressed at high levels in testis, pancreas and skeletal muscle and exists as three isoforms due to alternative splicing events. Defects in the gene encoding Twinkle are the cause of two conditions: progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant 3 (PEOA3) and sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO). PEOA3 is characterized by ptosis and weak muscles, while SANDO is characterized by ophthalmoparesis, dysarthria and sensory ataxic neuropathies.
Recommended Dilutions: Western Blot: 1:100-1000; IHC-P: 1:100-500
Type: Primary
Antigen: ATXN8
Clonality: Polyclonal
Clone:
Conjugation: HRP (Horseradish Peroxidase)
Epitope:
Host: Rabbit
Isotype: IgG
Reactivity: Human, Mouse, Rat