GLCNE蛋白抗体
规格：1mg/1ml
英文名： GLCNE
别名： 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/
分子量： 79kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human GLCNE
交叉反应：Human, Mouse, Rat, Pig, Cow, Horse, Rabbit, Sheep,
细胞定位：细胞浆
GLCNE蛋白抗体产品介绍：background: 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 ***** 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 GLCNE蛋白抗体(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 ***** 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 vacuolesGLCNE蛋白抗体 (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 *****hood, 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. 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 Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
GLCNE蛋白抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:50-200 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：心血管 发育生物学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid