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BBS7 rabbit pAb
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ES18092
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50 µL $148.00
100 µL $248.00
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Overview

Product name: BBS7 rabbit pAb
Reactivity: Human; Mouse
Source: Rabbit
Dilutions: WB 1：500-2000
Immunogen: Synthesized peptide derived from human BBS7 AA range: 85-135
Storage: -20°C/1 year
Clonality: Polyclonal
Isotype: IgG
Concentration: 1 mg/ml
Molecular Weight: 79kD
GeneID: 55212
Human Swiss-Prot No: Q8IWZ6
Cellular localization: Cell projection, cilium membrane . Cytoplasm . Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite . Cytoplasm, cytoskeleton, cilium basal body .
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],