Primary Identifier | IPR031209 | Type | Family |
Short Name | AIPL1 |
description | Aryl-hydrocarbon-interacting protein-like 1 (AIPL1) appears to function as a photoreceptor-specific molecular chaperone. Mutations in the AIPL1 gene cause Leber's congenital amaurosis (LCA), which is characterised by profound visual impairment or loss at birth []. |