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

• Cat.No.: GALE-2413H
• Product Overview: GALE MS Standard C13 and N15-labeled recombinant protein (NP_001121093) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• Species: Human
• Source: HEK293
• Tag: Myc&DDK
• 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 cognitive disability, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified.
• Molecular Mass: 38.3 kDa
• AA Sequence: MAEKVLVTGGAGYIGSHTVLELLEAGYLPVVIDNFHNAFRGGGSLPESLRRVQELTGRSVEFEEMDILDQGALQRLFKKYSFMAVIHFAGLKAVGESVQKPLDYYRVNLTGTIQLLEIMKAHGVKNLVFSSSATVYGNPQYLPLDEAHPTGGCTNPYGKSKFFIEEMIRDLCQADKTWNAVLLRYFNPTGAHASGCIGEDPQGIPNNLMPYVSQVAIGRREALNVFGNDYDTEDGTGVRDYIHVVDLAKGHIAALRKLKEQCGCRIYNLGTGTGYSVLQMVQAMEKASGKKIPYKVVARREGDVAACYANPSLAQEELGWTAALGLDRMCEDLWRWQKQNPSGFGTQATRTRPLEQKLISEEDLAANDILDYKDDDDKV
• 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: GALE UDP-galactose-4-epimerase [ Homo sapiens (human) ]
• 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; galactowaldenase; UDP-galactose 4-epimerase; UDP galactose-4-epimerase; galactose-4-epimerase, UDP-; short chain dehydrogenase/reductase family 1E, member 1; FLJ95174; FLJ97302
• Gene ID: 2582
• mRNA Refseq: NM_001127621
• Protein Refseq: NP_001121093
• MIM: 606953
• UniProt ID: Q14376