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产品中心-北京博奥森生物技术有限公司
Recombinant Human POMT1 Protein, N-His (bs-102762P)  
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20ug/980.00元
50ug/1880.00元
100ug/2680.00元
大包装/询价
产品编号 bs-102762P
英文名称 Recombinant Human POMT1 Protein, N-His
中文名称
别    名 POMT1; Dolichyl-phosphate-mannose--protein mannosyltransferase 1; Protein O-mannosyl-transferase 1  
克 隆 号
理论分子量 24.74 kDa
性    状 Lyophilized
纯    度 >90% as determined by SDS-PAGE.
缓 冲 液 Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
保存条件 Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
注意事项 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
产品介绍 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.

SWISS:
Q9Y6A1

Gene ID:
10585

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