Thermo Fisher Scientific Ataxin 1 Monoclonal Antibody (2B8A2)

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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—spinocerebellar ataxia (SCA) 1, 2, 3, 4, and 6—assigned to different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII, often referred to as the "pure" cerebellar syndrome (SCA5), are more 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 these CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size in successive generations.

The function of the ataxins is not yet known. This locus has been mapped to chromosome 6, and the diseased allele contains 41–81 CAG repeats (compared to 6–39 in the normal allele), associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been identified for this gene.

For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.