2024年12月24日 · Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family... See more...

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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.

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 …

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...

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...

2024年3月1日 · BBS4 protein has basal body/ciliary localization in sensory organs but extra-ciliary localization in oligodendrocytes during human development. BBS4 Is Essential for Nuclear Transport of Transcription Factors Mediating Neuronal ER Stress Response. A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome.

2017年8月29日 · We show that BBS4 and cilia regulate FSTL1 mRNA levels, but BBS4 also modulates FSTL1 secretion. Moreover, we show that FSTL1 is a novel regulator of ciliogenesis thus underscoring a regulatory loop between FSTL1 and cilia.

BBS4 is 1 of 7 BBS proteins that form the stable core of a protein complex required for ciliogenesis (Nachury et al., 2007). Mykytyn et al. (2001) analyzed an EST cluster within the critical mapping region for Bardet-Biedl syndrome-4 (BBS4; see 209900) on chromosome 15q22 and identified a contig with an open reading frame of 519 codons.