AIPL1
Function
May be important in protein trafficking and/or protein folding and stabilization.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina.
Cellular localization
- Cytoplasm
- Nucleus
Alternative names
AIPL2, AIPL1, Aryl-hydrocarbon-interacting protein-like 1