| Modification Notes |
The nephrocystin proteins comprise a family of five enzymes that commonly interact with p130Cas (BCAR1), proline-rich tyrosine kinases, calmodulin, and tensin, indicating that these proteins may participate in a common signaling pathway. The NPHP3 gene encodes Nephrocystin-3, a protein that interacts with nephrocystin and may play a role in renal tubular function and development. Nephrocystin-3 contains a tubulin-tyrosine ligase (TTL) domain, a coiled-coil (CC) domain, and a tetratrico peptide repeat (TPR) domain. It is expressed widely at a low level, specifically in tissues such as the heart, placenta, liver, skeletal muscle, kidney and pancreas. In the brain and lung, Nephrocystin-3 is expressed at a very low level. Mutations in NPHP3 may cause nephronophthisis type 3, a recessive disorder affecting adolescents characterized by sclerosing tubulointerstitial nephropathy, alterations of tubular basement membranes, tubular atrophy and dilatation, and renal cyst development primarily at the corticomedullary junction. These symptoms lead to chronic renal failure in affected individuals.° |