ATXN1

Size

£652.00

SKU:: 552474
Purity:: Purified
Storage Conditions:: -20°C
Supplier:: United States Biological
Host:: Mouse
Immunogen:: Purified recombinant protein fragment corresponding to aa645-815 from human ATXN1, expressed in E. coli.
Clone:: 4C7B11
Format:: Supplied as a liquid in PBS, 0.05% sodium azide.
Extra Details:: 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 40-83 CAG repeats, compared to 6-39 in the normal allele and is associated with spinocerebellar ataxia type 1 (SCA1). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames. Applications: Suitable for use in ELISA, Flow Cytometry, Western Blot and Immunohistochemistry. Other applications not tested. Recommended Dilution: ELISA: 1:10,000 Flow Cytometry: 1:200-1:400 Western Blot: 1:500-1:2000 Immunohistochemistry: 1:200-1:1000 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.

Shipping Conditions:: Blue Ice