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TMEM107: a new ciliopathy transition zone gene

Nature Reviews Nephrology volume 12, page 62 (2016)Cite this article

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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.

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References

  1. 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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  1. Jessica K. Edwards
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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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