Thermo Fisher Scientific Ataxin 1 Polyclonal Antibody

Applications

Product Specifications

Product Specific Information

Antibody detects endogenous levels of total Ataxin 1.

Target Information

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, assigned to different chromosomes. ADCAII, which presents with retinal degeneration (SCA7), and ADCAIII, referred to as the "pure" cerebellar syndrome (SCA5), are likely homogeneous disorders.
Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by expansion of these repeats, producing elongated polyglutamine tracts in the protein. The repeats are unstable and tend to increase in size in successive generations.
The function of the ataxins is not fully known. This locus maps to chromosome 6, where the diseased allele contains 41–81 CAG repeats compared to 6–39 in normal alleles, and is 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.

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