Products

Western Blot (Transfected lysate)

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

GNE

Gene Alias

DMRV, GLCNE, IBM2, NM, Uae1

Gene Description

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

Omim ID

Gene Ontology

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

Other Designations

N-acylmannosamine kinase|OTTHUMP00000021370|UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase|UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase