Recombinant Human ATXN1 protein, GST-tagged
Cat.No. : | ATXN1-1029H |
Product Overview : | Human ATXN1 partial ORF ( NP_000323, 576 a.a. - 675 a.a.) recombinant protein with GST-tag at N-terminal. |
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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. [provided by RefSeq, Jul 2016] |
Source : | Wheat Germ |
Species : | Human |
Tag : | GST |
Molecular Mass : | 36.74 kDa |
AA Sequence : | KGSIIQLANGELKKVEDLKTEDFIQ SAEISNDLKIDSSTVERIEDSHSPG VAVIQFAVGEHRAQVSVEVLVEYPF FVFGQGWSSCCPERTSQLFDLPCSK |
Applications : | Enzyme-linked Immunoabsorbent Assay; Western Blot (Recombinant protein); Antibody Production; Protein Array |
Notes : | Best use within three months from the date of receipt of this protein. |
Storage : | Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing. |
Storage Buffer : | 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer. |
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 |
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Related Gene
For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.
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Q&As (6)
Ask a questionSCA1 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.
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.
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.
ATXN1 protein is expressed in several tissues, but its expression is higher in the central nervous system, especially in the cerebellum and spinal cord.
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.
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.
Customer Reviews (3)
Write a reviewUsing Atxn1 as a catalyst, the rate and yield of chemical reactions can be significantly increased, and the catalytic efficiency is very high.
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.
Atxn1 are so simple to prepare that we can easily prepare them ourselves.
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