Recombinant Human TOR1A

• Cat.No.: TOR1A-29828TH
• Product Overview: Recombinant fragment with deletion at aa 303 , of Human Torsin A with N-Terminal proprietary tag.Mol Wt 62.41 kDa inclusive of tag.

Specification

• Description: The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1.
• Protein length: 332 amino acids
• Molecular Weight: 62.410kDa inclusive of tags
• Source: Wheat germ
• Form: Liquid
• Purity: Proprietary Purification
• Storage buffer: pH: 8.00Constituents:0.3% Glutathione, 0.79% Tris HCl
• Storage: Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
• Sequences of amino acids: MKLGRAVLGLLLLAPSVVQAVEPISLGLALAGVLTGYIYP RLYCLFAECCGQKRSLSREALQKDLDDNLFGQHLAKKIIL NAVFGFINNPKPKKPLTLSLHGWTGTGKNFVSKIIAENIY EGGLNSDYVHLFVATLHFPHASNITLYKDQLQLWIRGNVS ACARSIFIFDEMDKMHAGLIDAIKPFLDYYDLVDGVSYQK AMFIFLSNAGAERITDVALDFWRSGKQREDIKLKDIEHAL SVSVFNNKNSGFWHSSLIHRNLIDYFVPFLPLEYKHLKMC IRVEMQSRGYEIDEDIVSRVAEMTFFPKEERVFSDKGCKT VFTKLDYYYDD

Gene Information

• Gene Name: TOR1A torsin family 1, member A (torsin A) [ Homo sapiens ]
• Official Symbol: TOR1A
• Synonyms: TOR1A; torsin family 1, member A (torsin A); dystonia 1, torsion (autosomal dominant; torsin A) , DYT1; torsin-1A; DQ2
• Gene ID: 1861
• mRNA Refseq: NM_000113
• Protein Refseq: NP_000104
• MIM: 605204
• Uniprot ID: O14656
• Chromosome Location: 9q32-q34
• Pathway: Alpha-synuclein signaling, organism-specific biosystem
• Function: ATP binding; nucleotide binding; serine-type endopeptidase activity; unfolded protein binding