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lebercilin


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A protein (697 aa) that is mutated in Leber's congenital amaurosis type 5 (LCA5). It is highly expressed in adult retina, testis, kidney, and heart, and in ciliated cell lines localizes to the ciliary axoneme. Interacts with many proteins associated with centrosomal or ciliary functions, including cytoplasmic dynein, nucleophosmin, nucleolin, 14-3-3-ε, and HSP70.

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