Symbol: Name: ID: |
BBS7 Bardet-Biedl syndrome 7 GFS:7594 |
Gene name: | BBS7 |
Chromosome: | 4q27 |
Previous Symbols: | |
Previous Names: | |
Aliases: | FLJ10715, BBS2L1 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1918742 | Rat Genome Database ID: | RGD:1309264 |
HGNC ID: | HGNC:18758 | RefSeq IDs: | NM_018190 |
Entrez Gene ID: | 55212 | Ensembl Gene ID: | ENSG00000138686 |
VEGA IDs: | OTTHUMG00000133076 | UniProt ID: | Q8IWZ6 |
UCSC ID: | uc003ied.2 | OMIM ID: | 607590 |
Pubmed: | |||
CCDS IDs: | CCDSCCDS3724.1 |
This gene encodes one of seven proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9. 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, Feb 2011].
Function: The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane.
Products for BBS7 gene
Catalog | Product Name | Application | Company |
GFS:E07594 | Bardet-Biedl syndrome 7; ELISA kit | ELISA | n/a |
GFS:A07594 | Bardet-Biedl syndrome 7; Anti | ANTIBODIES | n/a |
GFS:P07594 | Bardet-Biedl syndrome 7; Protien | Protien | n/a |