2024年12月24日 · BBS7 (Bardet-Biedl Syndrome 7) is a Protein Coding gene. Diseases associated with BBS7 include Bardet-Biedl Syndrome 7 and Bardet-Biedl Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane.

2025年2月9日 · Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model. Authors found that within this structure, BBS2 and BBS7 form a tight dimer through a coiled-coil interaction and that BBS9 associates with the dimer via an interaction with the alpha-helical domain of BBS2.

Bardet-Biedl 综合征 7： 该基因编码构成 BBSome 复合体的八种蛋白质之一，包含 BBS1、BBS2、BBS4、BBS5、BBS7、BBS8、BBS9 和 BBIP10。 BBSome 复合体被认为将 Rab8 (GTP) 募集到初级纤毛并促进纤毛发生。

Bardet–Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene. [5] Mutations in this gene are associated with the Bardet–Biedl syndrome. [5]

尽管bbs基因的蛋白质产物的功能尚不完全清楚，但借助模式生物，研究者已揭示bbs蛋白参与纤毛功能及细胞内运输等，其中bbs7既是bbsome的一个的独立亚基，又可以通过直接结合bbs的分子伴侣形成复合物，参与相关的调控活动。

巴德-毕德尔综合症7，也被称为bbs7，与埃利斯-范克雷夫综合症和窒息性胸腔病有关。 与巴德-毕德尔综合症7相关的基因是BBS7（巴德-毕德尔综合症7），其相关通路/超级通路包括细胞器生物发生和维护以及纤毛景观。

2023年9月5日 · In a consanguineous Saudi pedigree with Bardet-Biedl syndrome (BBS7; 615984), Badano et al. (2003) identified a homozygous 4-bp deletion in the BBS7 gene that abolished the lysine at position 237 in exon 7 and which, by conceptual translation, resulted in premature termination in exon 9, at residue 296 (K237fsX296).

Bardet-Biedl syndrome-7 (BBS7) is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, impaired intellectual development, obesity, renal anomalies, and hypogenitalism (Harville et al., 2010).

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.

2018年6月26日 · BBS7 encodes one of seven Bardet-Biedl Syndrome (BBS) proteins that form the stable core of a protein complex required for ciliogenesis and that have a likely function in membrane trafficking to the primary cilium [1].