Aliases for NPHP3 Gene
External Ids for NPHP3 Gene
Previous GeneCards Identifiers for NPHP3 Gene
This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]
GeneCards Summary for NPHP3 Gene
NPHP3 (Nephronophthisis 3 (Adolescent)) is a Protein Coding gene. Diseases associated with NPHP3 include Renal-Hepatic-Pancreatic Dysplasia 1 and Nephronophthisis 3. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. An important paralog of this gene is KLC4.
UniProtKB/Swiss-Prot for NPHP3 Gene
Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements.