Target：GLCNE

Fields：Amino sugar and nucleotide sugar metabolism;Metabolic pathways;Biosynthesis of nucleotide sugars

Gene Name：GNE

Protein Name：Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

Human Gene Id：10020

Human Swiss Prot No：Q9Y223

Mouse Gene Id：50798

Mouse Swiss Prot No：Q91WG8

Rat Gene Id：114711

Rat Swiss Prot No：O35826

Immunogen：The antiserum was produced against synthesized peptide derived from human GNE. AA range:592-641

Specificity：GLCNE Polyclonal Antibody detects endogenous levels of GLCNE protein.

Formulation：Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Source：Polyclonal, Rabbit,IgG

Dilution：WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:5000.. IF 1:50-200

Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration：1 mg/ml

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Other Name：GNE;GLCNE;Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase;UDP-GlcNAc-2-epimerase/ManAc kinase

Observed Band(KD)：80kD

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. [provided by RefSeq, Jul 2008],

Function：catalytic activity:ATP + N-acyl-D-mannosamine = ADP + N-acyl-D-mannosamine 6-phosphate.,catalytic activity:UDP-N-acetyl-D-glucosamine = UDP-N-acetyl-D-mannosamine.,disease:Defects in GNE are a cause of sialuria [MIM:269921]; also known as sialuria French type. In sialuria, free sialic acid accumulates in the cytoplasm and gram quantities of neuraminic acid are secreted in the urine. The metabolic defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase by CMP-Neu5Ac, resulting in constitutive overproduction of free Neu5Ac. Clinical features include variable degrees of developmental delay, coarse facial features and hepatomegaly. Sialuria inheritance is autosomal dominant.,disease:Defects in GNE are the cause of inclusion body myopathy type 2 (IBM2) [MIM:600737]. Hereditary inclusion body myopathies are a group of neuromuscular disorders characterized by adult onset, slowly p

Subcellular Location：Cytoplasm .

Expression：Highest expression in liver and placenta. Also found in heart, brain, lung, kidney, skeletal muscle and pancreas. Isoform 1 is expressed in heart, brain, kidney, liver, placenta, lung, spleen, pancreas, skeletal muscle and colon. Isoform 2 is expressed mainly in placenta, but also in brain, kidney, liver, lung, pancreas and colon. Isoform 3 is expressed at low level in kidney, liver, placenta and colon.