Analysis of GNE Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1941-LGZ)

Introduction

Official Full Name: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase<br />Also known as: NM; DMRV; IBM2; Uae1; GLCNE<br />The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of the sialic acid precursor N-acetylneuraminic acid (NeuAc). It is the rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is critical to the function of many biological processes such as cell adhesion and signal transduction. Differential sialylation of cell surface molecules has also been implicated in the tumorigenic and metastatic behavior of malignant cells. Mutations in this gene have been associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms.