Code
BT-MCA4289
Host
Mouse
Isotype
Mouse IgG1
Size
100μL,50μL
Clonality
Monoclonal
Immunogen
Purified recombinant fragment of human ATXN1 (AA: 645-815) expressed in E. Coli.
Formulation
Purified antibody in PBS with 0.05% sodium azide
Storage
Store at 4°C short term. Aliquot and store at -20°C long term.
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 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames.
Uniprot accession
Molecular weight
86.9kDa
Gene ID
6310
Synonyms
ATX1;SCA1;D6S504E
Research area
Epigenetics and Nuclear Signaling
Target protein
ATXN1
