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Invitrogen
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Highest antigen sequence indentity to the following orthologs: Mouse (90%), Rat (90%).
This recombinant protein control fragment may be used for blocking experiments. In IHC/ICC and WB experiments, we recommend a 100x molar excess of the protein fragment control based on the concentration and the molecular weight. Pre-incubate the antibody-protein control fragment mixture for 30 min at room temperature.
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. 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.
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Protein Aliases: Ataxin-2; FLJ46772; Spinocerebellar ataxia type 2 protein; Trinucleotide repeat-containing gene 13 protein
Gene Aliases: ASL13; ATX2; ATXN2; SCA2; TNRC13
UniProt ID: (Human) Q99700
Entrez Gene ID: (Human) 6311
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