A bioinformatics-based analysis has identified TMEM107 as a candidate transition zone (TZ) ciliary gene that is mutated in oral–facial–digital and Joubert syndromes. Functional analyses performed in C. elegans showed that TMEM107 contributes to ciliary composition and function in a redundant manner with NPHP-4, and regulates cilium integrity, TZ docking, and assembly of membrane-to-microtubule (Y-link) connectors. TMEM107 localizes to layer three of the 'MKS module' in the TZ, where it organizes recruitment of ciliopathy proteins.
References
Lambacher, N. J. et al. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Nat. Cell Bio. http://dx.doi.org/10.1038/ncb3273
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Edwards, J. TMEM107: a new ciliopathy transition zone gene. Nat Rev Nephrol 12, 62 (2016). https://doi.org/10.1038/nrneph.2015.212
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DOI: https://doi.org/10.1038/nrneph.2015.212