Specifications
Immunogen
A synthetic peptide of human GNE is used for rabbit immunization.
Target
Alternative Names
GNE; glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase; IBM2, UDP N acetylglucosamine 2 epimerase/N acetylmannosamine kinase; bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; Uae1; N-acylmannosamine kinase; UDP-
Product Background
Antigen Description
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.
Pathway
Amino sugar and nucleotide sugar metabolism, organism-specific biosystem; Amino sugar and nucleotide sugar metabolism, conserved biosystem; CMP-N-acetylneuraminate biosynthesis I (eukaryotes), organism-specific biosystem; Metabolic pathways, organism-specific biosystem;
Citations
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