Product Datasheet
BBS7 Polyclonal Antibody
Catalog Number: 30144
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot#:Q8IWZ6
NCBI Gene ID:55212
- Form of Antibody:
- Avoid freeze / thaw cycles.|Buffer: PBS with 50% glycerol, pH7.4.
- Immunogen:
- Recombinant fusion protein of human BBS7 (NP_060660.2).
- reactivity:
- Human,Mouse,Rat
- appl_detail:
- WB 1:500 - 1:2000
IHC 1:50 - 1:100
IF 1:50 - 1:200
- Purification:
- Affinity purification
- Background:
- 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]
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