FITC标记的蛋白甘露糖基转移酶1抗体
产品名称： FITC标记的蛋白甘露糖基转移酶1抗体
英文名称： Anti-POMT1/FITC
产品编号： HZ-5952R-FITC
产品价格： null
产品产地： 中国/上海
品牌商标： HZbscience
更新时间： 2023-08-17T10:24:20
使用范围： IF=1:50-200
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Rabbit Anti-POMT1/FITC Conjugated antibody
FITC标记的蛋白甘露糖基转移酶1抗体
| 英文名称 | Anti-POMT1/FITC |
| 中文名称 | FITC标记的蛋白甘露糖基转移酶1抗体 |
| 别 名 | POMT1_HUMAN; Protein O-mannosyl-transferase 1; Dolichyl-phosphate-mannose--protein mannosyltransferase 1. |
| 规格价格 | 100ul/2980元 购买 大包装/询价 |
| 说 明 书 | 100ul |
| 研究领域 | 肿瘤 细胞生物 免疫学 神经生物学 糖蛋白 |
| 抗体来源 | Rabbit |
| 克隆类型 | Polyclonal |
| 交叉反应 | Human, Mouse, Rat, Pig, Cow, Horse, |
| 产品应用 | IF=1:50-200 not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 分 子 量 | 85kDa |
| 性 状 | Lyophilized or Liquid |
| 浓 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human POMT1 |
| 亚 型 | IgG |
| 纯化方法 | affinity purified by Protein A |
| 储 存 液 | 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. |
| 保存条件 | Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. |
| 产品介绍 | background: POMT1 (Protein O mannosyl transferase 1) is a multipass membrane protein that is found in the endoplasmic reticulum. POMT1 catalyses the transfer of mannosyl residues to the hydroxyl groups of serine or threonine residues. Enzymatic activity is dependent on co expression of POMT1 with POMT2. Defects in the POMT1 gene are associated with Walker-Warburg syndrome (WWS), a congential muscular dystrophy that is associated with mental retardation and is usually lethal within the first few months of life. Other defects in the POMT1 gene result in limb girdle muscular dystrophy type 2K (LGMD2K), which is associated with mild mental retardation. Studies in Drosophila suggest that mutation of POMT1 alters the efficacy of synaptic transmission and a change in subunit composition of post synaptic glutamate receptors at the neuromuscular junction. Missense mutations in POMT1 have been associated with glioneuronal and glial brain tumours. Function: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient. Subunit: Interacts with POMT2 (Probable). Subcellular Location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Tissue Specificity: Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels in kidney, skeletal muscle, brain, placenta, lung and liver. DISEASE: Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) [MIM:613155]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Note=The disease is caused by mutations affecting the gene represented in this entry. Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. Note=The disease is caused by mutations affecting the gene represented in this entry. Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1) [MIM:609308]: An autosomal recessive degenerative myopathy associated with mild mental retardation without any obvious structural brain abnormality. An abnormal alpha-dystroglycan pattern in observed in the muscle. Note=The disease is caused by mutations affecting the gene represented in this entry. Similarity: Belongs to the glycosyltransferase 39 family. Contains 3 MIR domains. Database links: Entrez Gene: 10585 Human Omim: 607423 Human SwissProt: Q9Y6A1 Human Unigene: 522449 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
POMT1（蛋白-甘露糖基转移酶1）是一种在内质网中发现的多通道膜蛋白。POMT1催化甘露糖残基转移到丝氨酸或苏氨酸残基的羟基。酶活性取决于POMT1与POMT2的共同表达。POMT1基因的缺陷与Walker-Wur堡综合征（WWS）有关，这是一种与智力迟钝有关的先天性肌营养不良症，通常在生命的最初几个月内是致命的。POMT1基因中的其他缺陷导致肢带型肌营养不良型2K（LGMd2K），这与轻度精神发育迟滞有关。在Drosophila的研究表明，POMT1的突变改变突触传递的有效性和突触后谷氨酸受体在神经肌肉接头处的亚基组成的改变。POMT1的错义突变与胶质瘤和胶质瘤相关。