Recombinant Human GALE, His-tagged

• Cat.No.: GALE-28967TH
• Product Overview: Recombinant full length Human GALE with N terminal His tag; 368 amino acids, MWt 40.4kDa.

Specification

• Species: Human
• Source: E.coli
• Tag: His
• Protein Length: 348 amino acids
• Description: This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and mental retardation, with symptoms ranging from mild (peripheral form) to severe (generalized form). Multiple alternatively spliced transcripts encoding the same protein have been identified.
• Conjugation: HIS
• Molecular Weight: 40.400kDa inclusive of tags
• Form: Liquid
• Purity: >95% by SDS-PAGE
• Storage buffer: Preservative: NoneConstituents: 10% Glycerol, 0.1M Sodium chloride, 5mM DTT, 20mM Tris HCl, 1mM EDTA, pH 8.0
• 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: MGSSHHHHHHSSGLVPRGSHMAEKVLVTGGAGYIGSHTVLELLEAGYLPVVIDNFHNAFRGGGSLPESLRRVQELTGRSVEFEEMDILDQGALQRLFKKYSFMAVIHFAGLKAVGESVQKPLDYYRVNLTGTIQLLEIMKAHGVKNLVFSSSATVYGNPQYLPLDEAHPTGGCTNPYGKSKFFIEEMIRDLCQADKTWNAVLLRYFNPTGAHASGCIGEDPQGIPNNLMPYVSQVAIGRREALNVFGNDYDTEDGTGVRDYIHVVDLAKGHIAALRKLKEQCGCRIYNLGTGTGYSVLQMVQAMEKASGKKIPYKVVARREGDVAACYANPSLAQEELGWTAALGLDRMCEDLWRWQKQNPSGFGTQA
• Sequence Similarities: Belongs to the sugar epimerase family.

Gene Information

• Gene Name: GALE UDP-galactose-4-epimerase [ Homo sapiens ]
• Official Symbol: GALE
• Synonyms: GALE; UDP-galactose-4-epimerase; galactose 4 epimerase, UDP; UDP-glucose 4-epimerase; SDR1E1; short chain dehydrogenase/reductase family 1E; member 1; UDP glucose 4 epimerase
• Gene ID: 2582
• mRNA Refseq: NM_000403
• Protein Refseq: NP_000394
• MIM: 606953
• Uniprot ID: Q14376
• Chromosome Location: 1p36-p35
• Pathway: Amino sugar and nucleotide sugar metabolism, organism-specific biosystem; Amino sugar and nucleotide sugar metabolism, conserved biosystem; Galactose catabolism, organism-specific biosystem; Galactose metabolism, organism-specific biosystem; Galactose metabolism, conserved biosystem
• Function: UDP-glucose 4-epimerase activity; UDP-glucose 4-epimerase activity; UDP-glucose 4-epimerase activity; catalytic activity; coenzyme binding