Recombinant Human ATXN3

• Cat.No.: ATXN3-27045TH
• Product Overview: Recombinant full length human Ataxin 3; amino acids 1-370 , 42.4kDa.

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 13-36 to 68-79 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: E. coli
• Tissue specificity: Ubiquitous.
• Form: Liquid
• Purity: >90% by SDS-PAGE
• Storage buffer: Preservative: NoneConstituents: 10% Glycerol, 50mM Sodium chloride, 20mM Tris HCl, 2mM DTT, pH 7.5
• Storage: Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
• Sequences of amino acids: MESIFHEKQE GSLCAQHCLN NLLQGEYFSP VELSSIAHQL DEEERMRMAE GGVTSEDYRT FLQQPSGNMD DSGFFSIQVI SNALKVWGLE LILFNSPEYQ RLRIDPINER SFICNYKEHW FTVRKLGKQW FNLNSLLTGP ELISDTYLAL FLAQLQQEGY SIFVVKGDLP DCEADQLLQM IRVQQMHRPK LIGEELAQLK EQRVHKTDLE RVLEANDGSG MLDEDEEDLQ RALALSRQEI DMEDEEADLR RAIQLSMQGS SRNISQDMTQ TSGTNLTSEE LRKRREAYFE KQQQKQQQQQ QQQQQQQQQQ QQQQGDLSGQ SSHPCERPAT SSGALGSDLG DAMSEEDMLQ AAVTMSLETVRNDLKTEGKK
• Sequence Similarities: Contains 1 Josephin domain.Contains 3 UIM (ubiquitin-interacting motif) repeats.

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
• Gene ID: 4287
• mRNA Refseq: NM_001127696
• Protein Refseq: NP_001121168
• MIM: 607047
• Uniprot ID: P54252
• Chromosome Location: 14q21
• Pathway: Protein processing in endoplasmic reticulum, organism-specific biosystem; Protein processing in endoplasmic reticulum, conserved biosystem
• Function: cysteine-type peptidase activity; omega peptidase activity; peptidase activity; protein binding