Nphp1 - nephrocystin 1

Predicted to be involved in several processes, including photoreceptor cell outer segment organization; positive regulation of bicellular tight junction assembly; and spermatid differentiation. Predicted to be located in several cellular components, including ciliary base; motile cilium; and photoreceptor distal connecting cilium. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Joubert syndrome 4; Senior-Loken syndrome; nephronophthisis; and nephronophthisis 1. Orthologous to human NPHP1 (nephrocystin 1). [provided by Alliance of Genome Resources, Apr 2022]