GALE (NM_001008216) Human Mass Spec Standard

CAT#: PH308709

GALE MS Standard C13 and N15-labeled recombinant protein (NP_001008217)



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CNY 19,520.00


货期*
4周

规格
    • 10 ug

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Specifications

Product Data
Description GALE MS Standard C13 and N15-labeled recombinant protein (NP_001008217)
Species Human
Expression Host HEK293
Expression cDNA Clone or AA Sequence RC208709
Predicted MW 38.3 kDa
Protein Sequence
Tag C-Myc/DDK
Purity > 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration >0.05 µg/µL as determined by microplate BCA method
Labeling Method Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine
Buffer 25 mM Tris-HCl, 100 mM glycine, pH 7.3
Reference Data
RefSeq NP_001008217
RefSeq Size 1585
RefSeq ORF 1044
Synonyms SDR1E1
Locus ID 2582
Cytogenetics 1p36.11
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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