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.
仕様
Synonyms：2310066H07Rik,Bifunctional UDP N acetylglucosamine 2 epimerase/N acetylmannosamine kinase,DMRV,GLCNE,Glucosamine （UDP N acetyl） 2 epimerase/N acetylmannosamine kinase,GNE,IBM2,ManAc kinase,N acylmannosamine kinase,N-acetylmannosamine kinase,NM,RP23-209M8.6,Uae1,UDP GlcNAc 2 epimerase,UDP GlcNAc 2 epimerase/ManAc kinase,UDP N acetylglucosamine 2 epimerase/N acetylmannosamine kinase,UDP-GlcNAc-2-epimerase,UDP-GlcNAc-2-epimerase/ManAc kinase,Uridine diphosphate N acetylglucosamine 2 epimerase,Uridine diphosphate-N-acetylglucosamine-2-epimerase
Host：Rabbit
Reactivity：Human,Mouse,Rat
Applications：WB,IHC
Concentration：1mg/ml
Immunogen：Recombinant protein of human GNE
Purification Method：Affinity purification
Clonality：Polyclonal
Conjugation：Unconjugated
Buffer：Buffer： PBS with 0.02％ sodium azide, 50％ glycerol, pH7.3.
Dilution：WB1：500 - 1：2000 IHC1：50 - 1：100
Gene_ID（human）：10020
Swissprot：Q9Y223
Isotype：IgG
Research Areas：Cardiovascular, Developmental biology
