TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

@inproceedings{Roberson2015TMEM231MI,
  title={TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone},
  author={Elle C. Roberson and William E. Dowdle and Aysegul Ozanturk and Francesc R. Garcia-Gonzalo and Chunmei Li and Jan Halbritter and Nadia Elkhartoufi and Jonathan Douglas Porath and Heidi A Cope and Allison A Ashley-Koch and Simon R Gregory and Sophie Thomas and John A Sayer and Sophie Saunier and Edgar A. Otto and Nicholas Katsanis and Erica E Davis and Tania Atti{\'e}-Bitach and Friedhelm Hildebrandt and Michel R. Leroux and Jeremy F Reiter},
  booktitle={The Journal of cell biology},
  year={2015}
}
The Meckel syndrome (MKS) complex functions at the transition zone, located between the basal body and axoneme, to regulate the localization of ciliary membrane proteins. We investigated the role of Tmem231, a two-pass transmembrane protein, in MKS complex formation and function. Consistent with a role in transition zone function, mutation of mouse Tmem231 disrupts the localization of proteins including Arl13b and Inpp5e to cilia, resulting in phenotypes characteristic of MKS such as… CONTINUE READING
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