Abstract
AIPL1 encodes aryl-hydrocarbon interacting protein-like 1, which is a protein that may be important for protein folding and trafficking, expressed in the developing and adult photoreceptor layer. It has also been shown to affect photoreceptor function as well as signal transduction through its mediation of cone PDE6 and RetGC1, respectively [1]. Mutations in AIPL1 cause recessive Leber congenital amaurosis (LCA) and juvenile-onset rod-cone dystrophy, dominant cone-rod dystrophy has also been reported.
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Zahid, S. et al. (2018). AIPL1 . In: Retinal Dystrophy Gene Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-10867-4_2
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DOI: https://doi.org/10.1007/978-3-319-10867-4_2
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