ATXN1 Monoclonal Antibody

SKU: BT-MCA2542

Size:100μL

Background: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. At least two transcript variants encoding the same protein have been found for this gene.Tissue specificity: Widely expressed throughout the body.

Research_area:Epigenetics and Nuclear Signaling

Target_protein:ATXN1

applications:IHC, ICC, FCM

Reactivity:Human

Clonality:Monoclonal

Clone ID:2F5

Host:Mouse

Isotype:Mouse IgG1

Gene Symbol/ Name:ATXN1

Immunogen:Purified recombinant fragment of human ATXN1 expressed in E. Coli.

Storage:4°C|-20°C for long term storage

Purification:

Formulation:Ascitic fluid containing 0.03% sodium azide.

Concentration:

Molecular weight(Da):87kDa

UniProt accession:P54253

Synonyms:ATX1, SCA1, D6S504E, ATXN1

GeneID:6310