{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["He R"],"funding":["National Research Institute for Family Planning","National Natural Science Foundation of China","Natural Science Foundation of Jiangsu Province"],"pagination":["e196365"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12807484"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["136(2)"],"pubmed_abstract":["Ciliary dysfunction results in multiorgan developmental diseases, collectively known as ciliopathies. The B9D1-B9D2-MKS1protein complex maintains the gatekeeper function at the ciliary transition zone (TZ). However, the function of B9 proteins and the mechanisms underlying why different variants in the same B9 gene cause different ciliopathies are not fully understood. Here, we investigated the function of B9 proteins and revealed 2 critical functions. First, the B9 complex interacted with and anchored TMEM67 to the TZ membrane. Disruption of the B9-TMEM67 complex reduced posttranslational modifications of axonemal microtubules due to deregulation of tubulin-modifying enzymes within cilia. Second, B9 proteins localized to centrioles prior to ciliogenesis, where they facilitated the initiat"],"journal":["The Journal of clinical investigation"],"pubmed_title":["Ciliopathy-related B9 protein complex regulates ciliary axonemal microtubule posttranslational modifications and initiation of ciliogenesis."],"pmcid":["PMC12807484"],"funding_grant_id":["32322021 and 32570808 to MC","32125015 and 31991194 to CZ","2020GJZ05 and 2022GJZ01 to ML","82203386 to HJ","and 32370813 and 31991191 to JP","BK20231351 to LW"],"pubmed_authors":["Han Q","Cao M","Ma X","Lin Z","Gao H","Jiao H","Wang L","Shang Q","Wang S","Jin M","Wan K","Shen Y","Chang H","Pan X","Li J","Zhao C","Lu C","He R","Yin H","Li Y","Meng D","Pan J","Cao Z","Luo M","Lv N"],"additional_accession":[]},"is_claimable":false,"name":"Ciliopathy-related B9 protein complex regulates ciliary axonemal microtubule posttranslational modifications and initiation of ciliogenesis.","description":"Ciliary dysfunction results in multiorgan developmental diseases, collectively known as ciliopathies. The B9D1-B9D2-MKS1protein complex maintains the gatekeeper function at the ciliary transition zone (TZ). However, the function of B9 proteins and the mechanisms underlying why different variants in the same B9 gene cause different ciliopathies are not fully understood. Here, we investigated the function of B9 proteins and revealed 2 critical functions. First, the B9 complex interacted with and anchored TMEM67 to the TZ membrane. Disruption of the B9-TMEM67 complex reduced posttranslational modifications of axonemal microtubules due to deregulation of tubulin-modifying enzymes within cilia. Second, B9 proteins localized to centrioles prior to ciliogenesis, where they facilitated the initiat","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Jan","modification":"2026-06-06T13:51:43.834Z","creation":"2026-05-31T03:09:47.797Z"},"accession":"S-EPMC12807484","cross_references":{"pubmed":["41165761"],"doi":["10.1172/JCI196365"]}}