anti- AIPL1 antibody

Background

AIPL1 is a specialized molecular chaperone predominantly expressed in retinal photoreceptor cells, where it plays a crucial role in the folding, stability, and assembly of proteins essential for phototransduction. Structurally, AIPL1 contains tetratricopeptide repeat (TPR) domains, which mediate protein-protein interactions, and a FKBP-like domain, enabling its chaperone activity. AIPL1 is critical for the proper function of phosphodiesterase 6 (PDE6), a key enzyme in the visual cycle. It helps stabilize PDE6 subunits during their assembly, ensuring efficient phototransduction signaling. Mutations in the AIPL1 gene are associated with severe retinal degenerative diseases, including Leber congenital amaurosis type 4 (LCA4) and retinitis pigmentosa (RP). These conditions result from impaired PDE6 function, leading to photoreceptor cell death and progressive vision loss. Due to its specific expression in photoreceptors and essential role in their survival, AIPL1 is a target of interest for gene therapy and retinal disease research.