ATXN7, ID (ATXN7, SCA7, Ataxin-7, Spinocerebellar ataxia type 7 protein) (FITC)

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 encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants.\n\nApplications:\nSuitable for use in Western Blot, ELISA\n\nRecommended Dilution:\nELISA: 1:1,000\nWestern Blot: 1:100-500\n\nStorage and Stability:\nMay be stored at 4 degrees C for short-term only. Aliquot to avoid repeated freezing and thawing. Do not freeze FITC conjugates. Light sensitive. Aliquots are stable for 6 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Prices direct from United States Biological

Quick response times

Exclusive Biosave savings/discounts

SPECIFICATIONS

Catalog Number

032320-FITC

Size

200ul

Applications

ELISA, WB

Hosts

Rabbit

Reactivities

Hum

Form

Supplied as a liquid in PBS, pH 7.2. Contains ~0.09% sodium azide. Conjugated to FITC.

P Type

Pab

Purity

Purified by Protein A affinity chromatography.

Isotype

IgG

References

Bonnet, J., et al. EMBO Rep. 11(8):612-618(2010)\nHan, Y., et al. Neurol India 58(4):622-626(2010)\nChou, A.H., et al. Neurochem. Int. 56(2):329-339(2010)\nMookerjee, S., et al. J. Neurosci. 29(48):15134-15144(2009)\nFreund, A.A., et al. Arq Neuropsiquiatr 67(4):1124-1132(2009)

Additional Info

Human

Alternative Names

ATXN7, SCA7, Ataxin-7, Spinocerebellar ataxia type 7 protein