ATXN7 Antibody

Background:

The autosomal dominant cerebellar ataxias (ADCA) are aheterogeneous group of neurodegenerative disorders characterized byprogressive degeneration of the cerebellum, brain stem and spinalcord. Clinically, ADCA has been divided into three groups: ADCAtypes I-III. ADCAI is genetically heterogeneous, with five geneticloci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6,being assigned to five different chromosomes. ADCAII, which alwayspresents with retinal degeneration (SCA7), and ADCAIII oftenreferred to as the 'pure' cerebellar syndrome (SCA5), are mostlikely homogeneous disorders. Several SCA genes have been clonedand shown to contain CAG repeats in their coding regions. ADCA iscaused by the expansion of the CAG repeats, producing an elongatedpolyglutamine tract in the corresponding protein. The expandedrepeats are variable in size and unstable, usually increasing insize when transmitted to successive generations. This locus hasbeen mapped to chromosome 3, and it has been determined that thediseased allele associated with spinocerebellar ataxia-7 contains38-130 CAG repeats (near the N-terminus), compared to 7-17 in thenormal allele. The encoded protein is a component of theSPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-freeTAF-containing (TFTC) chromatin remodeling complexes, and it thusplays a role in transcriptional regulation. Alternative splicingresults in multiple transcript variants.