|Aliases||SLSN4; KIAA0673; nephroretinin; nephrocystin 4; Senior-Loken syndrome 4|
|Gene Product|| |
|OMIM and SNP||
|Summary||This gene encodes a protein which contains a proline-rich region. The encoded protein may function in renal tubular development and function. This protein interacts with nephrocystin. Mutations in this gene are associated with nephronophthisis type 4. Multiple alternative transcript variants have been described but their full-length nature has not been determined.|
|Evidence||Mutation in Nephronophthisis
© 2004, KGDB, All Rights Reserved.
Department of Urology
University of California, San Francisco