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anti-Human BBS7 Antibodies:
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Human Monoclonal BBS7 Primary Antibody for ELISA, WB - ABIN527427
Seo, Baye, Schulz, Beck, Zhang, Slusarski, Sheffield: BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. in Proceedings of the National Academy of Sciences of the United States of America 2010
This gene encodes one of seven proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9. 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.
Bardet-Biedl syndrome 7
, bardet-biedl syndrome 7
, Bardet-Biedl syndrome 7 protein
, bardet-Biedl syndrome 7 protein-like
, BBS2-like 1
, BBS2-like protein 1
, Bardet-Biedl syndrome 7 protein homolog