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Cep290 - Centrosomal protein 290kDa

Involved in cilium assembly. Located in ciliary basal body; ciliary cap; and ciliary transition zone. Is expressed in scolopidial cilium; spermatid axoneme; and spermatocyte. Human ortholog(s) of this gene implicated in several diseases, including Bardet-Biedl syndrome 14; Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4; and Senior-Loken syndrome. Orthologous to human CEP290 (centrosomal protein 290). [provided by Alliance of Genome Resources, Dec 2024]

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Species Gene Architecture aa