Understanding how the mitotic role and pathophysiology of cilia proteins are linked


  • The JBTS17 cilia protein has a key role in controlling the cell cycle and development of neural progenitor cells.

  • Dysfunction of JBTS17 results in cortical abnormalities which may help to explain the pathophysiology of a range of complex neurological defects known as ciliopathies.

Why this matters

  • The JBTS17 gene could be a new and useful marker of ciliopathies, potentially aiding the genetic counselling of affected families.