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Recombinant Human FLCN Protein, N-His (bs-104059P)  
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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-104059P
英文名称 Recombinant Human FLCN Protein, N-His
中文名称
别    名 BHD skin lesion fibrofolliculoma protein; FLCN; Birt-Hogg-Dube syndrome protein; BHD; Folliculin  
克 隆 号
理论分子量 28.46 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 This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in three transcript variants encoding different isoforms.

SWISS:
Q8NFG4

Gene ID:
201163

BHD综合征(Birt-Hogg-Dube综合征)是指:患者患有多发性纤维毛囊瘤,并伴发软垂疣、胶原瘤、脂肪瘤和(或)口腔纤维瘤。是一种显性遗传综合征,有报告BHD患者可伴发髓样癌、结肠癌和肾细胞癌。 BHD综合征,主要为纤维毛囊瘤约2~4mm大小,皮肤色丘疹,可单个存在,但常见为多发性,散在分布于颜面、躯干和四肢。另外可伴发软垂疣、胶原瘤、脂肪瘤和(或)口腔纤维瘤。
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