蛋白甘露糖基转移酶1抗体
规格：1mg/1ml
英文名： POMT1
别名： POMT1_HUMAN; Protein O-mannosyl-transferase 1; Dolichyl-phosphate-mannose--protein mannosyltransferase 1.
分子量： 85kDa
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 POMT1
交叉反应：Human, Mouse, Rat, Pig, Cow, Horse,
细胞定位：
蛋白甘露糖基转移酶1抗体产品介绍：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 蛋白甘露糖基转移酶1抗体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蛋白甘露糖基转移酶1抗体 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. Gene ID: 10585 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.
蛋白甘露糖基转移酶1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=1:100-500 （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：肿瘤 细胞生物 **学 神经生物学 糖蛋白
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid