Ataxin-1 Rabbit anti-Human, Polyclonal, Bethyl Laboratories

Description

• The recommended shelf life for this product is 1 year from date of receipt
• The autosomal domit 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, being assigned to five different chromosomes
• ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure′ cerebellar syndrome (SCA5), are most likely 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 the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein
• The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations
• The function of the ataxins is not known
• This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1)
• At least two transcript variants encoding the same protein have been found for this gene.