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产品中心-北京博奥森生物技术有限公司
Recombinant Human BBS2 Protein, N-His (bs-103999P)  
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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-103999P
英文名称 Recombinant Human BBS2 Protein, N-His
中文名称
别    名 Bardet-Biedl syndrome 2 protein; BBS2  
克 隆 号
理论分子量 31.15 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 Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder characterized by obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay. Other associated clinical findings in BBS patients include diabetes, hypertension, and congenital heart defects. BBS is a heterogeneous disorder that maps to eight genetic loci and encodes eight proteins, BBS1-BBS8. Five BBS genes encode basal body or cilia proteins, suggesting that BBS is a ciliary dysfunction disorder. BBS2 is a 721-amino acid protein that is evolutionarily conserved and is expressed in a broad range of tissues including: brain, kidney, adrenal gland, and thyroid gland. Loss of BBS2 may be involved in defects in social interactions as well as infertility. BBS2 retinopathy involves normal retina development followed by apoptotic death of photoreceptors, the primary ciliated cells of the retina.

SWISS:
Q9BXC9

Gene ID:
583

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