| Modification Notes |
The nephrocystin proteins comprise a family of five enzymes that commonly interact with p130Cas, proline-rich tyrosine kinases, calmodulin, and tensin, indicating that these proteins may participate in a common signaling pathway. Nephrocystin-4 is a 1,250-amino acid protein that interacts with signaling molecules involved in cell adhesion and organization of the actin cytoskeleton, such as Pyk2, tensin, and filamins. Nephrocystin-4 colocalizes with PKD-2 in the transition zones of ciliated sensory endings of dendrites, and, together, they play an important role in facilitating ciliary sensory signal transduction. Mutations in the Nephrocystin-4 gene contribute to the disease nephronophthisis, an autosomal-recessive cystic kidney disease. Clinical features of familial juvenile nephronophthisis include anemia, polyuria, polydipsia, isosthenuria, and death. |