产品概述：Recombinant protein of human Bardet-Biedl syndrome 7 (BBS7), transcript variant 2

蛋白长度：Recombinant protein was produced with GoldORF clone, [GH37386V]. Click on the GoldORF clone link to view cDNA and protein sequences.

表达系统：HEK293T

种属：Human

标签类型：C-Myc/DDK

分子量：75.3 kDa

通用名：BBS7

总结：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]

形式：Liquid

浓度：>50 ug/mL as determined by microplate BCA method

纯度：> 80% as determined by SDS-PAGE and Coomassie blue staining

储存溶液：25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

别名：BBS2L1