位置:首页 > 产品库 > 巴尔得-别德尔综合征相关蛋白7抗体
立即咨询
咨询类型:
     
*姓名:
*电话:
*单位:
Email:
*留言内容:
请详细说明您的需求。
*验证码:
 
巴尔得-别德尔综合征相关蛋白7抗体
本产品不向个人销售,仅用作科学研究,不用于任何人体实验及非科研性质的动物实验。

Anti-BBS7
Anti-Bardet-Biedl syndrome 7 Antibody
靶标:

BBS7


产品别名:

BBS2L1; BBS7; Bardet-Biedl syndrome 7; Bardet-Biedl syndrome 7; Bardet-Biedl syndrome 7 protein; BBS2-like 1; 巴尔得-别德尔综合征相关蛋白7;


背景信息:
This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014],
 
 
维奥蛋白资源库 - 中文蛋白资源 CopyRight © 2010-2025