Recombinant Human ATXN1 protein, His/T7-tagged

• Cat.No.: ATXN1-3683H
• Product Overview: Recombinant Human ATXN1(Thr569~Ile807) fused with His/T7 tag at N-terminal was expressed in E. coli.

Specification

• Species: Human
• Source: E.coli
• Tag: His&T7
• Protein Length: Thr569~Ile807
• Description: 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). At least two transcript variants encoding the same protein have been found for this gene.
• Form: PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300
• Molecular Mass: 30.1kDa
• Endotoxin: Less than 0.1 ng/µg (1 IEU/µg) as determined by LAL test.
• Purity: > 95%
• Applications: SDS-PAGE; WB; ELISA; IP
• Stability: The thermal stability is described by the loss rate. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37 centigrade for 48h, and no obvious degradation and precipitation were observed. The loss rate is less than 5% within the expiration date under appropriate storage condition.
• Storage: Avoid repeated freeze/thaw cycles. Store at 2-8 centigrade for one month. Aliquot and store at -80 centigrade for 12 months.
• Reconstitution: Reconstitute in PBS or others.

Gene Information

• Gene Name: ATXN1 ataxin 1 [ Homo sapiens ]
• Official Symbol: ATXN1
• Synonyms: ATXN1; ataxin 1; SCA1, spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1); ataxin-1; ATX1; D6S504E; spinocerebellar ataxia type 1 protein; SCA1
• Gene ID: 6310
• mRNA Refseq: NM_000332
• Protein Refseq: NP_000323
• MIM: 601556
• UniProt ID: P54253
• Chromosome Location: 6p23
• Function: DNA binding; RNA binding; identical protein binding; poly(G) RNA binding; poly(U) RNA binding; protein C-terminus binding; protein binding; protein self-association