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Recombinant Human ATXN2, His-tagged

Cat.No.: ATXN2-10068H
Product Overview: Recombinant Human ATXN2 protein, fused to His-tag, was expressed in E.coli and purified by Ni-sepharose.
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. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined.
Source: E.coli
Species: Human
Tag: His
Protein length: 540-889a.a.
Storage: The protein is stored in PBS buffer at -20℃. Avoid repeated freezing and thawing cycles.
Storage Buffer: 1M PBS (58mM Na2HPO4,17mM NaH2PO4, 68mM NaCl, pH8. ) added with 300mM Imidazole and 0.7% Sarcosyl, 15%glycerol.
Gene Name: ATXN2 ataxin 2 [ Homo sapiens ]
Official Symbol: ATXN2
Synonyms: ATXN2; ataxin 2; SCA2, spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2) , TNRC13; ataxin-2; ATX2; trinucleotide repeat containing 13; spinocerebellar ataxia type 2 protein; trinucleotide repeat-containing gene 13 protein; SCA2; TNRC13; FLJ46772;
Gene ID: 6311
mRNA Refseq: NM_002973
Protein Refseq: NP_002964
MIM: 601517
UniProt ID: Q99700
Chromosome Location: 12q23-q24.1
Function: RNA binding; protein C-terminus binding; protein binding;

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