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Sequence variants in BBS7 were identified in families with CRB2 (show CRB2 Proteins)-related syndrome.
BBS7 gene was a novel variant (c.103-1G>A) in the consensus splice acceptor site, which altered the splicing recognition site of 'AG' to 'AA' at the BBS7 gene intron 2 and exon 3 boundary.
This study describes a novel mutation in BBS7 causing Bardet-Biedl syndrome in a Chinese family.
small role of BBS7 and TTC8 (show TTC8 Proteins) in the overall mutational load of Bardet-Biedl syndrome patients
bbs7 and pk2 Both affect zebrafish neural tube polarity, and bbs7 is not required for asymmetric Pk localization.
BBS7 is not required for the localization of ciliary membrane proteins polycystin-1 (show PKD1 Proteins), polycystin-2 (show PKD2 Proteins), or bitter taste receptors, but absence of BBS7 leads to abnormal accumulation of the dopamine D1 receptor (show DRD1 Proteins) to the ciliary membrane
Knockout of Bbs7 combined with a hypomorphic Ift88 (show IFT88 Proteins) allele (orpk as a model for Shh (show SHH Proteins) dysfuction) results in embryonic lethality with e12.5 embryos having exencephaly, pericardial edema, cleft palate and abnormal limb development.
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.
Bardet-Biedl syndrome 7
, bardet-biedl syndrome 7
, Bardet-Biedl syndrome 7 protein
, bardet-Biedl syndrome 7 protein-like
, BBS2-like 1
, BBS2-like protein 1
, Bardet-Biedl syndrome 7 protein homolog