GALE (1-348, His-Tag) Human Protein
Specifications
| Product Data | |
| Species | Human |
|---|---|
| Expression Host | E. coli |
| Expression cDNA Clone or AA Sequence | |
| Tag | His-Tag |
| Predicted MW | 40.4 kDa (368aa) confirmed by MALDI-TOF |
| Concentration | 0.5mg/ml (determined by Bradford assay) |
| Purity | > 95% by SDS-PAGE |
| Presentation State | Purified |
| Buffer | Liquid in. 20mM Tris-HCl buffer (pH 8.0) containing 10% glycerol 5mM DTT, 0.1M NaCl, and 1mM EDTA |
| Preparation | Liquid purified protein |
| Recommended Dilution | SDS-PAGE |
| Protein Description | Recombinant human GALE protein, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography techniques. |
| Storage | Can be stored at +2°C to +8°C for 1 week. For long term storage, aliquot and store at -20°C to -80C. Avoid repeated freezing and thawing cycles. |
| Stability | Shelf life: one year from despatch. |
| Shipping | Blue Ice |
| Reference Data | |
| RefSeq | NP_000394.2 |
| Locus ID | 2582 |
| UniProt ID | Q14376 |
| Cytogenetics | 1p36.11 |
| Synonyms | UDP-glucose 4-epimerase, Galactowaldenase, UDP-N-acetylgalactosamine 4-epimerase, UDP-GalNAc 4-epimerase, UDP-N-acetylglucosamine 4-epimerase, UDP-GlcNAc 4-epimerase, UDP-galactose 4-epimerase, short chain dehydrogenase/reductase family 1E, member 1, SDR1E1 |
| Summary | 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. provided by RefSeq, Jul 2008 |
| Protein Categories | Intracellular Proteins |
| Protein Families | Druggable Genome |
| Protein Pathways | Amino sugar and nucleotide sugar metabolism, Galactose metabolism, Metabolic pathways |
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