Description
| 抗体名: | GNE Antibody (PACO23504) |
| 抗体コード: | PACO23504 |
| サイズ: | 100ul |
| 宿主種: | Rabbit |
| 申し込み: | ELISA, WB, IHC |
| 推奨される希釈: | ELISA:1:2000-1:10000, WB:1:500-1:3000, IHC:1:50-1:100 |
| 反応性: | Human |
| 免疫原: | Synthesized peptide derived from C-terminal of human GNE. |
| 憲法: | Liquid |
| ストレージバッファ: | Rabbit IgG in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol. |
| 精製方法: | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. |
| 抗体のクローン性: | Polyclonal |
| アイソタイプ: | IgG |
| Conjugate: | Non-conjugated |
 | Western blot analysis of extracts from NIH/3T3 cells, using GNE antibody. |
 | Immunohistochemistry analysis of paraffin-embedded human placenta tissue, using GNE antibody. |
| バックグラウンド: | 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. |
| シノニム: | Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; UDP-GlcNAc-2-epimerase/ManAc kinase; UDP-N-acetylglucosamine 2-epimerase; UDP-GlcNAc-2-epimerase; Uridine diphosphate-N-acetylglucosamine-2-epimeraseN-acetylmannosamine kinase |
| UniProt Protein Function: | GNE: Regulates and initiates biosynthesis of N- acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development. Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells. Defects in GNE are a cause of sialuria (SIALURIA); 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). 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); 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. 5 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:EC 2.7.1.60; Isomerase; Cell adhesion; Cytoskeletal; Kinase, other; Carbohydrate Metabolism - amino sugar and nucleotide sugar; EC 3.2.1.183; Motility/polarity/chemotaxis Chromosomal Location of Human Ortholog: 9p13.3 Cellular Component: cytoplasm; cytosol Molecular Function:N-acylmannosamine kinase activity; protein binding; UDP-N-acetylglucosamine 2-epimerase activity Biological Process: cell adhesion; N-acetylneuraminate metabolic process Disease: Inclusion Body Myopathy 2, Autosomal Recessive; Nonaka Myopathy; Sialuria |
| NCBI Summary: | 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] |
| UniProt Code: | Q9Y223 |
| NCBI GenInfo Identifier: | 45476991 |
| NCBI Gene ID: | 10020 |
| NCBI Accession: | Q9Y223.1 |
| UniProt Secondary Accession: | Q9Y223,Q0VA94, A6PZH2, A6PZH3, A7UNU7, B2R6E1, B7Z372 B7Z428, D3DRP7, F5H499, H0YFA7, |
| UniProt Related Accession: | Q9Y223 |
| Molecular Weight: | 66,784 Da |
| NCBI Full Name: | Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase |
| NCBI Synonym Full Names: | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
| NCBI Official Symbol: | GNE |
| NCBI Official Synonym Symbols: | NM; DMRV; IBM2; Uae1; GLCNE |
| NCBI Protein Information: | bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase |
| UniProt Protein Name: | Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase |
| UniProt Synonym Protein Names: | UDP-GlcNAc-2-epimerase/ManAc kinaseIncluding the following 2 domains:UDP-N-acetylglucosamine 2-epimerase (hydrolyzing) (EC:3.2.1.183)Alternative name(s):UDP-GlcNAc-2-epimerase; Uridine diphosphate-N-acetylglucosamine-2-epimerase |
| Protein Family: | Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase |
| UniProt Gene Name: | GNE |
| UniProt Entry Name: | GLCNE_HUMAN |
