nephrocystin-4; nephroretinin (NPHP4, KIAA0673)

Function

• interacts with NPHP1 & RPGRIP1L

Structure

belongs to the NPHP4 family

Compartment

• cytoplasm, cytoskeleton, cilium basal body
• cytoplasm, cytoskeleton, centrosome

Expression

• expressed in kidney, skeletal muscle, heart & liver, & to a lesser extent in brain & lung

Pathology

• defects in NPHP4 are the cause of
  • nephronophthisis type 4
  • Senior-Loken syndrome

More general terms

• nephrocystin

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=261734
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:261734
• OMIM: https://mirror.omim.org/entry/606966
• OMIM: https://mirror.omim.org/entry/606996
• OMIM: https://mirror.omim.org/entry/607215
• UniProt: http://www.uniprot.org/uniprot/O75161.html