|Western Blot (WB)||1:500-1:3000|
|Tested Species reactivity||Human|
|Host / Isotype||Rabbit / IgG|
|Immunogen||Recombinant protein fragment corresponding to a region within amino acids 44 and 364 of Human Ataxin 3|
|Purification||Antigen affinity chromatography|
|Storage buffer||PBS, pH 7, with 10% glycerol|
|Storage conditions||-20° C, Avoid Freeze/Thaw Cycles|
PA5-27391 targets Ataxin 3 in IF and WB applications and shows reactivity with Human samples.
The PA5-27391 immunogen is recombinant protein fragment corresponding to a region within amino acids 44 and 364 of Human Ataxin 3.
Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is the cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
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Protein Aliases: ataxin 3 variant an; ataxin 3 variant ao; ataxin 3 variant at; ataxin 3 variant e; ataxin 3 variant h; ataxin 3 variant m; ataxin 3 variant r; ataxin 3 variant ref; ataxin 3 variant y; ataxin 3); Ataxin-3; ATX3; autosomal dominant; JOS; josephin; Machado-Joseph disease (spinocerebellar ataxia 3; Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3); Machado-Joseph disease protein 1; MJD; MJD1; olivopontocerebellar ataxia 3; SCA3; spin; Spinocerebellar ataxia type 3 protein
Gene Aliases: AT3; ATX3; ATXN3; JOS; MJD; MJD1; SCA3
UniProt ID: (Human) P54252
Entrez Gene ID: (Human) 4287
Molecular Function: transcription factor
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