84-5338-10　［取扱停止］BBS7 50ul　530269

特徴

• 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]
• Applications:Suitable for use in Western Blot, Immunohistochemistry and Immunofluorescence.
• Other applications not tested.
• Recommended Dilution:Western Blot: 1:500-1:2000Immunohistochemistry: 1:50-1:100Immunofluorescence: 1:50-1:200Optimal dilutions to be determined by the researcher.
• AA Sequence:MDLILNRMDYLQVGVTSQKTMKLIPASRHRATQKVVIGDHDGVVMCFGMKKGEAAAVFKTLPGPKIARLELGGVINTPQEKIFIAAASEIRGFTKRGKQFLSFETNLTESIKAMHISGSDLFLSASYIYNHYCDCKDQHYYLSGDKINDVICLPVERLSRITPVLACQDRVLRVLQGSDVMYAVEVPGPPTVLALHNGNGGDSGEDLLFGTSDGKLALIQITTSKPVRKWEIQNEKKRGGILCIDSFDIVGDGVKDLLVGRDDGMVEVYS
• Positive Control:Rat testis, rat lung
• Storage and Stability:May be stored at 4°C for short-term only.
• Aliquot to avoid repeated freezing and thawing.
• Store at -20°C.
• Aliquots are stable for 12 months after receipt.
• For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.