Recombinant Full Length Human ATXN3 Protein, GST-tagged

• Cat.No.: ATXN3-1053HF
• Product Overview: Human ATXN3 full-length ORF ( NP_001019802.1, 1 a.a. - 79 a.a.) recombinant protein with GST-tag at N-terminal.

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. [provided by RefSeq, Jul 2016]
• Source: In Vitro Cell Free System
• Species: Human
• Tag: GST
• Molecular Mass: 35.4 kDa
• Protein length: 79 amino acids
• AA Sequence: MESIFHEKQE GSLCAQHCLN NLLQGEYFSP VELSSIAHQL DEEERMRMAE GGVTSEDYRT FLQQPSGNMD DSGFFSIQK
• Applications: Enzyme-linked Immunoabsorbent Assay; Western Blot (Recombinant protein); Antibody Production; Protein Array
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCl, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: ATXN3 ataxin 3 [ Homo sapiens ]
• 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_001127696
• Protein Refseq: NP_001121168
• MIM: 607047
• UniProt ID: P54252