Nphp1 - nephronophthisis 1 (juvenile) homolog (human)

Involved in several processes, including photoreceptor cell outer segment organization; retina development in camera-type eye; and spermatid differentiation. Located in ciliary base; cytoplasm; and photoreceptor distal connecting cilium. Is expressed in several structures, including central nervous system; genitourinary system; gut; respiratory system; and white fat. 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]