Recombinant Human ATXN3 Protein, Myc/DDK-tagged, C13 and N15-labeled

• Cat.No.: ATXN3-6246H
• Product Overview: ATXN3 MS Standard C13 and N15-labeled recombinant protein (NP_004984) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• Description: 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 12-44 to 52-86 is one 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.
• Source: HEK293
• Species: Human
• Tag: Myc/DDK
• Molecular Mass: 41.1 kDa
• AA Sequence: MESIFHEKQEGSLCAQHCLNNLLQG EYFSPVELSSIAHQLDEEERMRMAE GGVTSEDYRTFLQQPSGNMDDSGFF SIQVISNALKVWGLELILFNSPEYQ RLRIDPINERSFICNYKEHWFTVRK LGKQWFNLNSLLTGPELISDTYLAL FLAQLQQEGYSIFVVKGDLPDCEAD QLLQMIRVQQMHRPKLIGEELAQLK EQRVHKTDLERVLEANDGSGMLDED EEDLQRALALSRQEIDMEDEEADLR RAIQLSMQGSSRNISQDMTQTSGTN LTSEELRKRREAYFEKQQQKQQQQQ QQQQQGDLSGQSSHPCERPATSSGA LGSDLGDAMSEEDMLQAAVTMSLET VRNDLKTEGKKTRTRPLEQKLISEE DLAANDILDYKDDDDKV
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Stability: Stable for 3 months from receipt of products under proper storage and handling conditions.
• Storage: Store at -80 centigrade. Avoid repeated freeze-thaw cycles.
• Concentration: 50 μg/mL as determined by BCA
• Storage Buffer: 100 mM glycine, 25 mM Tris-HCl, pH 7.3.

Gene Information

• Gene Name: ATXN3 ataxin 3 [ Homo sapiens (human) ]
• Official Symbol: ATXN3
• Synonyms: ATXN3; ataxin 3; Machado Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3), MJD, SCA3; ataxin-3; ATX3; JOS; josephin; ataxin 3 variant h; ataxin 3 variant m; ataxin 3 variant ref; olivopontocerebellar ataxia 3; Machado-Joseph disease protein 1; spinocerebellar ataxia type 3 protein; Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3); AT3; MJD; MJD1; SCA3
• Gene ID: 4287
• mRNA Refseq: NM_004993
• Protein Refseq: NP_004984
• MIM: 607047
• UniProt ID: P54252