Species Human Entrez 23746 | Human Mouse Ensembl ENSG00000129221 | |
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Aliases AIPL1, AIPL2, LCA4, aryl hydrocarbon receptor interacting protein like 1 External IDs MGI: 2148800 HomoloGene: 22806 GeneCards: AIPL1 | ||
Aryl-hydrocarbon-interacting protein-like 1 is a protein that in humans is encoded by the AIPL1 gene.
Contents
Function
Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA.
Interactions
AIPL1 has been shown to interact with NUB1.