Jouberin localizes to collecting ducts and interacts with nephrocystin-1.

@article{Eley2008JouberinLT,
  title={Jouberin localizes to collecting ducts and interacts with nephrocystin-1.},
  author={Lorraine Eley and Christos Gabrielides and Matthew R. Adams and Colin A Johnson and Friedhelm Hildebrandt and John A. Sayer},
  journal={Kidney international},
  year={2008},
  volume={74 9},
  pages={
          1139-49
        }
}
Joubert syndrome and related disorders are autosomal recessive multisystem diseases characterized by cerebellar vermis aplasia/hypoplasia, retinal degeneration and cystic kidney disease. There are five known genes; mutations of which give rise to a spectrum of renal cystic diseases the most common of which is nephronophthisis, a disorder characterized by early loss of urinary concentrating ability, renal fibrosis, corticomedullary cyst formation and renal failure. Many of the proteins encoded… CONTINUE READING

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