The inherited blindness associated protein, aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), interacts with the cell cycle regulator protein NUB1. AIPL1 is crucial for protein folding and stabilization, as well as for protein trafficking. It localizes to the nucleus or cytoplasm and is highly expressed in the pineal gland and the retina. In the retina, AIPL1 is expressed in both developing cone and rod photoreceptors, but it is restricted to rod photoreceptors in the adult human retina. Defects in the gene encoding for AIPL1 can cause Leber congenital amaurosis type IV, an early-onset, inherited autosomal recessive disorder that results in childhood blindness.
Subcellular location: Cytoplasm, Nucleus
Synonyms: A930007I01Rik, Aipl1, AIPL1_HUMAN, AIPL2, Aryl hydrocarbon interacting protein like 1, Aryl hydrocarbon receptor interacting protein like 1, Aryl-hydrocarbon-interacting protein-like 1, LCA4, MGC25485, OTTHUMP00000128207, OTTMUSP00000006382, RP23-401C17.1.