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Official Full Name
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Background
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.
Synonyms
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; IBM2; 2310066H07Rik; Bifunctional UDP N acetylglucosamine 2 epimerase/N acetylmannosamine kinase; DMRV; ManAc kinase; N acylmannosamine kinase; NM; RP23-209M8.6; UDP GlcNAc 2 epimerase; UDP GlcNAc 2 epimerase/ManAc kinase; Uridine diphosphate N acetylglucosamine 2 epimerase; N-acylmannosamine kinase; UDP-GlcNAc-2-epimerase/ManAc kinase; UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase; GLCNE; zgc:77657