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AIPL1

Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants.
Protein class

Disease related genes, Human disease related genes

Predicted location

Intracellular

Single cell type specificity

Cell type enriched (Rod photoreceptor cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (HaCaT, OE19)

Interaction

Interacts with NUB1.

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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