Thermo Fisher Scientific Phospho-ATXN1 (Ser775) Polyclonal Antibody

Applications

Product Specifications

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 contain CAG repeats in their coding regions, and expansion of these repeats leads to elongated polyglutamine tracts, causing disease. The SCA1 locus on chromosome 6 contains 41–81 CAG repeats in the diseased allele compared to 6–39 in the normal allele. 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.