Product Name	GLCNE
Chinese Name	GLCNE蛋白抗体
Alias	IBM2; Uae1; Bifunctional UDP N acetylglucosamine 2 epimerase/N acetylmannosamine kinase; DMRV; ManAc kinase; N acylmannosamine kinase; NM; RP23-209M8.6; UDP GlcNAc 2 epimerase; UDP GlcNAc 2 epimerase/ManAc kinase; Uridine diphosphate N acetylglucosamine 2 epimerase; GLCNE_HUMAN.
Research Area	Cardiovascular  Developmental biology
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	(predicted: Human, Mouse, Rat, Pig, Cow, Horse, Rabbit, Sheep, )
Applications	WB=1:500-2000 ELISA=1:5000-10000  not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
Theoretical molecular weight	79kDa
Cellular localization	cytoplasmic
Form	Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from human GLCNE: 131-230/722
Lsotype	IgG
Purification	affinity purified by Protein A
Buffer Solution	0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Storage	Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Attention	This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed	PubMed
Product Detail	The bifunctional enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE/Mnk), or GLCNE, regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. GLCNE is required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells. It is upregulated after PKC-dependent phosphorylation and is most abundantly expressed in liver and placenta. It is also expressed, to a lesser extent, in heart, brain, lung, kidney, skeletal muscle and pancreas. Defects in GLCNE are the cause of sialuria, inclusion body myopathy 2 (IBM2) and Nonaka myopathy (NM) or distal myopathy with rimmed vacuoles (DMRV). Sialuria is an autosomal dominant disorder caused by a lack of feedback inhibition of GLCNE by CMP-NeuAc, resulting in overproduction of NeuAc. It is characterized by an accumulation of free sialic acid in the cytoplasm and large quantities of neuraminic acid in the urine. Both IBM2 and NM/DMRV are autosomal recessive neuromuscular disorders characterized by adult onset, distal and proximal muscle weakness (especially in the legs) and a typical muscle pathology including filamentous inclusions and rimmed vacuoles. Function: Regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development (By similarity). Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells. Subunit: Homodimer and homohexamer. Subcellular Location: Cytoplasmic Tissue Specificity: 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. Post-translational modifications: Phosphorylated by PKC (By similarity). DISEASE: Defects in GNE are a cause of sialuria (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. 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 progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. IBM2 is an autosomal recessive disorder affecting mainly leg muscles, but with an unusual distribution that spares the quadriceps as also observed in Nonaka myopathy. Defects in GNE are the cause of Nonaka myopathy (NM) [MIM:605820]; also known as distal myopathy with rimmed vacuoles (DMRV). NM is an autosomal recessive muscular disorder, allelic to inclusion body myopathy 2. It is characterized by weakness of the anterior compartment of the lower limbs with onset in early adulthood, and sparing of the quadriceps muscles. As the inclusion body myopathy, NM is histologically characterized by the presence of numerous rimmed vacuoles without inflammatory changes in muscle specimens. Similarity: In the N-terminal section; belongs to the UDP-N-acetylglucosamine 2-epimerase family. In the C-terminal section; belongs to the ROK (NagC/XylR) family. SWISS: Q9Y223 Gene ID: 10020 Database links: Entrez Gene: 10020 Human Entrez Gene: 50798 Mouse Entrez Gene: 114711 Rat Omim: 603824 Human SwissProt: Q9Y223 Human SwissProt: Q91WG8 Mouse SwissProt: O35826 Rat Unigene: 5920 Human Unigene: 256718 Mouse Unigene: 18753 Rat

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