GALE (NM_000403) Human Recombinant Protein

SKU TP720236L

Recombinant protein of human UDP-galactose-4-epimerase (GALE), transcript variant 1

Product Data

• Species: Human
• Expression Host: E. coli
• Expression cDNA Clone or AA Sequence:
  Protein Sequence

  Met1-Ala348
• Tag: N-His
• Predicted MW: 40.4 kDa
• Concentration: lot specific
• Purity: >95% as determined by SDS-PAGE and Coomassie blue staining
• Buffer: Supplied as a 0.2 um filtered solution of 50mM Tris-HCl, 150mM NaCl, 2mM DTT, 1mM EDTA, pH 8.0.
• Endotoxin: < 0.1 EU per µg protein as determined by LAL test
• Storage: Store at < -20°C, stable for 6 months after receipt. Please minimize freeze-thaw cycles.
• Stability: Stable for at least 3 months from date of receipt under proper storage and handling conditions.
• Shipping: Dry Ice

Reference Data

• RefSeq: NP_000394
• Locus ID: 2582
• UniProt ID: Q14376
• Cytogenetics: 1p36.11
• Synonyms: 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 Families: Druggable Genome
• Protein Pathways: Amino sugar and nucleotide sugar metabolism, Galactose metabolism, Metabolic pathways