Thermo Fisher Scientific Ataxin 1 Monoclonal Antibody (4C7B11)

Thermo Fisher Scientific Ataxin 1 Monoclonal Antibody (4C7B11)

Applications and Tested Dilutions

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 (SCA1, 2, 3, 4, and 6) assigned to different chromosomes. ADCAII, which presents with retinal degeneration (SCA7), and ADCAIII, often referred to as the “pure” cerebellar syndrome (SCA5), are more homogeneous.
Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by expansion of these CAG repeats, producing elongated polyglutamine tracts in the corresponding proteins. The expanded repeats vary in size and are unstable, often increasing in successive generations.
The function of ataxins is not fully understood. The Ataxin 1 locus is mapped 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 Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.

제품 이미지

(이미지 없음)