Loss of membrane targeting of Vangl proteins causes neural tube defects.

@article{Iliescu2011LossOM,
  title={Loss of membrane targeting of Vangl proteins causes neural tube defects.},
  author={Alexandra Iliescu and Michel Gravel and Cynthia Horth and Zoha Kibar and Philippe Gros},
  journal={Biochemistry},
  year={2011},
  volume={50 5},
  pages={795-804}
}
In the mouse, the loop-tail mutation (Lp) causes a very severe neural tube defect, which is caused by mutations in the Vangl2 gene. In mammals, Vangl1 and Vangl2 code for integral membrane proteins that assemble into asymmetrically distributed membrane complexes that establish planar cell polarity in epithelial cells and that regulate convergent extension movements during embryogenesis. To date, VANGL are the only genes in which mutations cause neural tube defects in humans. Three independently… CONTINUE READING