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

• 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.
• Source: E. coli
• Species: Human
• Tag: His/T7
• Form: PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300
• Molecular Mass: 30.1kDa
• Protein length: Thr569~Ile807
• 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

Reviews

12/10/2020

Using Atxn1 as a catalyst, the rate and yield of chemical reactions can be significantly increased, and the catalytic efficiency is very high.

10/22/2019

The stability of Atxn1 is very good, and its structure and function remain stable even after several freeze-thaw cycles, which shows its excellent quality control and production process.

06/18/2019

Atxn1 are so simple to prepare that we can easily prepare them ourselves.

Q&As

How do mutations in ATXNprotein cause SCA1?

SCA1 is caused by mutations in the ATXN1 gene. The mutation resulted in the expansion of glutamine repeats in ATXN1 protein, resulting in the formation of abnormal polyglutamic acid protein. This protein abnormality can lead to abnormal neuronal function and degenerative changes, leading to the occurrence of SCA1.

Does ATXNprotein interact with other proteins?

Yes, the ATXN1 protein interacts with multiple proteins to form complexes involved in the regulation of a variety of cellular functions. For example, ATXN1 interacts with the Capicua (CIC) protein and is involved in transcriptional regulation.

Which diseases are associated with ATXNprotein?

The protein is associated with spinocerebellar ataxia type 1 (SCA1). SCA1 is an inherited neurodegenerative disease characterized by dysfunction of the cerebellum and spinal cord, leading to ataxia and other neurological symptoms.

In which tissues is ATXNprotein expressed?

ATXN1 protein is expressed in several tissues, but its expression is higher in the central nervous system, especially in the cerebellum and spinal cord.

What is the regulatory mechanism of ATXNprotein function?

The function of ATXN1 protein is regulated by a variety of regulatory mechanisms, including post-translational modification, assembly of protein complexes, and transcriptional regulation. These regulatory mechanisms ensure the adaptability and stability of ATXN1 protein.

What is the role of ATXNprotein in humans?

ATXN1 protein is involved in the regulation of a variety of neural cell functions, including cell cycle regulation, DNA repair, transcription regulation, etc. It plays an important role in the development and functional maintenance of the nervous system.