GLCNE (GNE) (NM_005476) Human Mass Spec Standard

CAT#: PH322626

GNE MS Standard C13 and N15-labeled recombinant protein (NP_005467)

  View other "GNE" proteins (5)

USD 2,055.00

3 Weeks*

Size
    • 10 ug

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Specifications

Product Data
Tag C-Myc/DDK
Species Human
Expression Host HEK293
Expression cDNA Clone or AA Sequence RC222626
Predicted MW 79.3 kDa
Protein Sequence
Purity > 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration 50 ug/ml as determined by BCA
Labeling Method Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine
Buffer 100 mM glycine, 25 mM Tris-HCl, pH 7.3. Store at -80°C. Avoid repeated freeze-thaw cycles. Stable for 3 months from receipt of products under proper storage and handling conditions.
Reference Data
RefSeq NP_005467
RefSeq Size 5329
RefSeq ORF 2166
Synonyms DMRV; GLCNE; IBM2; NM; Uae1
Locus ID 10020
UniProt ID Q9Y223
Cytogenetics 9p13.3
Summary The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Protein Families Druggable Genome
Protein Pathways Amino sugar and nucleotide sugar metabolism, Metabolic pathways

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