Ataxin 1 (ATXN1) ELISA Kit for Sheep

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, 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. [provided by RefSeq, Jan 2010]

ataxin-1: spinocerebellar ataxia type 1 (SCA1) protein. Expansion of CAG repeats in the SCA1 gene results in an abnormally long polyglutamine tract in the protein, causing polyglutamine-induced neurodegeneration. 14-3-3 and Akt kinase stabilize both wild-type and mutant forms of ataxin-1. The expansion of the polyglutamine tract may alter this function.

Protein type: RNA-binding; Nuclear export

Chromosomal Location of Human Ortholog: 6p23

Cellular Component: nucleoplasm; nuclear RNA export factor complex; nuclear matrix; intracellular membrane-bound organelle; cytoplasm; nucleus; nuclear inclusion body

Molecular Function: protein C-terminus binding; identical protein binding; protein binding; DNA binding; protein self-association; poly(U) binding; chromatin binding; poly(rG) binding

Biological Process: RNA processing; transcription, DNA-dependent; adult locomotory behavior; nuclear export; negative regulation of insulin-like growth factor receptor signaling pathway; visual learning; negative regulation of phosphorylation; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; regulation of excitatory postsynaptic membrane potential; alveolus development

Disease: Spinocerebellar Ataxia 1