BBS7 Rabbit Polyclonal Antibody

Ab type

Primary antibody

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.

Reactivity

Human, Mouse

Clonality

Polyclonal

Host

Rabbit

Isotype

IgG

Immunogen

Synthesized peptide derived from human BBS7

Storage Stability

-20°C for 1 year

Concentration

1 mg/ml

MolecularWeight_Da

78650

synonyms

BBS7