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. [provided by RefSeq, Jan 2014]

Aryl Hydrocarbon Receptor Interacting Protein Like 1

May be important in protein trafficking and/or protein folding and stabilization.

Negative regulation of apoptotic process Source: Ensembl
Phototransduction, visible light Source: Ensembl
Protein farnesylation Source: MGI
Regulation of rhodopsin mediated signaling pathway Source: Ensembl
Retina homeostasis Source: Ensembl
Visual perception Source: ProtInc

Nucleus; Cytoplasm

Leber congenital amaurosis 4 (LCA4): A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.