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.1) Bonnet, J., et al. EMBO Rep. 11(8):612-618(2010)
Immunogen
This ATXN7 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 354-381 amino acids from the Central region of human ATXN7.
Western blot analysis in CEM cell line lysates (35ug/lane).
Application Notes
For WB starting dilution is: 1:1000
Additional Information
Form
Liquid
Storage Instructions
Store at 4˚C for three months and -20˚C, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.