Technical Data
032320
ATXN7, ID (ATXN7, SCA7, Ataxin-7, Spinocerebellar ataxia type 7 protein)
Description:
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.

Applications:
Suitable for use in Western Blot, ELISA

Recommended Dilution:
ELISA: 1:1,000
Western Blot: 1:100-500

Storage and Stability:
May be stored at 4C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
TypeIsotypeCloneGrade
PabIgGAffinity Purified
SizeStorageShippingSourceHost
200ul-20CBlue IceHumanRabbit
Concentration:
As reported
Immunogen:
ATXN7 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 353-381 amino acids from the Central region of human ATXN7.
Purity:
Purified by Protein A affinity chromatography.
Form
Supplied as a liquid in PBS, pH 7.2, 0.09% sodium azide.
Specificity:
Human
Intended for research use only. Not for use in human, therapeutic, or diagnostic applications.
Bonnet, J., et al. EMBO Rep. 11(8):612-618(2010)
Han, Y., et al. Neurol India 58(4):622-626(2010)
Chou, A.H., et al. Neurochem. Int. 56(2):329-339(2010)
Mookerjee, S., et al. J. Neurosci. 29(48):15134-15144(2009)
Freund, A.A., et al. Arq Neuropsiquiatr 67(4):1124-1132(2009)