| Primary Identifier | IPR029775 | Type | Family |
| Short Name | NPHP4 |
| description | All nephrocystin proteins (NPHPs) localise to primary cilia, which are critical regulators of several cell signalling pathways for embryonic development and tissue homeostasis. Nephrocystin-4 (NPHP4) localises to the basal body []and is thought to be involved in basal body docking and organising ciliary trafficking []. It is a negative regulator of canonical Wnt signalling [, ]. Mutations in NPHP4 cause Nephronophthisis 4, an autosomal-recessive cystic kidney disease that belongs to a broad spectrum of disorders collectively termed ciliopathies []. |
