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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for GNE (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID10020
Official gene symbolGNE
Full nameglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Aliases,DMRV,GLCNE,IBM2,NM,Uae1,
Gene summaryThe 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]
LocationChromosome: 9   Locus: 9p13.3
Gene position36277053 - 36214438  Map Viewer
Gene orientationminus
Gene size62616 bp
Gene sequence
OMIM ID603824