Bardet–Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene. [5] [6] [7] This gene encodes a protein which contains tetratricopeptide repeats (TPR), similar to O-linked N-acetylglucosamine transferase. Mutations in this gene have been observed in patients with Bardet–Biedl syndrome type 4.

2024年12月24日 · BBS4 (Bardet-Biedl Syndrome 4) is a Protein Coding gene. Diseases associated with BBS4 include Bardet-Biedl Syndrome 4 and Bardet-Biedl Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane.

2025年1月4日 · BBS4 Is Essential for Nuclear Transport of Transcription Factors Mediating Neuronal ER Stress Response. The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells. a novel nonsense mutation in BBS4 gene in …

We report a mutation screening of BBS4, the third of at least six BBS genes in the human genome, in a large, multiethnic patient cohort. As predicted from earlier genetic linkage/haplotype analyses, BBS4 is a minor contributor to BBS, since only …

BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).

BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).

2017年8月29日 · Here we characterize a functional interaction between BBS4 and the secreted protein FSTL1, a protein linked to adipogenesis and inflammation among other functions. We show that BBS4 and cilia...

In this study, we show that mice lacking the Bbs4 protein have major components of the human phenotype, including obesity and retinal degeneration. We show that Bbs4-null mice develop both motile and primary cilia, demonstrating that Bbs4 is not required for global cilia formation.

2004年4月25日 · Here we show that BBS4 localizes to the centriolar satellites of centrosomes and basal bodies of primary cilia, where it functions as an adaptor of the p150 glued subunit of the dynein transport...

Here, we demonstrate that BBS-4 and BBS-5, two distinct BBSome components, show unexpected functional redundancy in the context of cilia in C. elegans. BBS-4 directly interacts with BBS-5 and the interaction can be disrupted by a …