84-4901-88　ATXN7 (Ataxin-7) 100ul　475980

特徴

• ATXN7 is involved in neurodegeneration.
• ATXN7 acts as component of the STAGA transcription coactivator-HAT complex.
• ATXN7 mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation.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.
• This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with Spinocerebellar ataxia-7, contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele.
• The exact function of this gene is not known, however, since the encoded protein contains a nuclear localization sequence, and is found to be localized in the nucleus, it has been postulated to be a potential transcription factor.
• Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene.
• Applications:Suitable for use in Western Blot.
• Other applications not tested.
• Recommended Dilution:Optimal 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 after receipt.
• For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.