Nphp4 - nephrocystin 4

Predicted to be involved in negative regulation of canonical Wnt signaling pathway; positive regulation of bicellular tight junction assembly; and protein localization to ciliary transition zone. Predicted to act upstream of or within several processes, including flagellated sperm motility; photoreceptor cell maintenance; and photoreceptor cell outer segment organization. Located in ciliary basal body. Human ortholog(s) of this gene implicated in Joubert syndrome 4; Senior-Loken syndrome; congenital heart disease; nephronophthisis; and nephronophthisis 4. Orthologous to human NPHP4 (nephrocystin 4). [provided by Alliance of Genome Resources, Apr 2022]