84-2148-50　ATXN1 (aa686-699) (Ataxin-1, Ataxin 1, ATX1, D6S504E, SCA1, OTTHUMP00000016065, Spinocerebellar ataxia type 1 protein) 100ug　208018

特徴

• The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord.
• Clinically, ADCA has been divided into three groups: ADCA types I-III.
• ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes.
• ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders.
• Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions.
• ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein.
• The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations.
• The function of the ataxins is not known.
• This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1).
• At least two transcript variants encoding the same protein have been found for this gene.
• Applications:Suitable for use in Peptide ELISA and Western Blot.
• Other applications not tested.
• Recommended Dilution:Peptide ELISA: 1:32,000Optimal dilutions to be determined by the researcher.
• Storage and Stability:May be stored at 4°C for short-term only.
• Aliquot to avoid repeated freezing and thawing.
• Store at -20°C.
• Aliquots are stable for 12 months.
• For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.