Entrez gene ID | | 10020 |
Official gene symbol | | GNE |
Full name | | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
Aliases | | ,DMRV,GLCNE,IBM2,NM,Uae1, |
Gene 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] |
Location | | Chromosome: 9 Locus: 9p13.3 |
Gene position | | 36277053 - 36214438 Map Viewer |
Gene orientation | | minus |
Gene size | | 62616 bp |
Gene sequence |
| |
OMIM ID | | 603824 |
|