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.

Classification:

Primary antibody

Alternative names:

BBS7

Species reactivity:

Human, Mouse

Host:

Rabbit

Isotype:

IgG

Immunogen:

Synthesized peptide derived from human BBS7

Concentration:

1 mg/ml

Molecular weight:

78650

Applications:

WB

Storage:

-20°C for 1 year

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