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E-AB-91885

BBS7 Polyclonal Antibody

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£195.30

Was £217.00

SKU:
E-AB-91885
Additional Names:
BBS2L1,BBS7
Application:
WB
Concentration:
1 mg/ml
Purification:
Affinity Purified
Storage Conditions:
-20[o]C Avoid freeze/thaw cycles.
Supplier:
Elabscience
Host:
Rabbit
Reactivities:
Human, Mouse, Rat
Buffer:
Phosphate buffered solution, pH 7.4, containing 0.05% stabilizer and 50% glycerol.
Immunogen:
Recombinant fusion protein of human BBS7
Uniprot:
Q8IWZ6
Synonyms:
Bardet-Biedl syndrome 7 protein;BBS2-like 1;BBS2-like protein 1;BBS2L1
Extra Details:
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]
Shipping Conditions:
Blue Ice