GALE (NM_000403) Human Recombinant Protein

Specifications

Product Data
Species	Human
Expression Host	E. coli
Expression cDNA Clone or AA Sequence	Protein Sequence (showhide) 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.
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.
Endotoxin	< 0.1 EU per µg protein as determined by LAL test
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

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