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Target intelligence / Profile preview
Arylhydrocarbon-interacting protein-like 1 (AIPL1)
- Target
- AIPL1
- Molecular classification
- FKBP prolyl isomerase, Chaperone protein
01
Overview
AIPL1 is a photoreceptor/pineal-expressed gene encoding a chaperone protein that plays a critical role in the visual system. It contains three tetratricopeptide repeat (TPR) motifs, consistent with roles in nuclear transport or chaperone activity. AIPL1 functions as an obligate molecular chaperone for phosphodiesterase-6 (PDE6), essential for rod and cone photoreceptor health. Mutations in AIPL1 are responsible for approximately 20% of recessive cases of Leber congenital amaurosis type 4 (LCA4).
- Other names
- AIPL2LCA4aryl hydrocarbon receptor interacting protein like 1
02
Biological functions
Protein foldingPhototransductionChaperone activity
03
Disease associations
Leber congenital amaurosisRetinal degeneration
04
Safety considerations
Mutations lead to severe vision lossTherapeutic interventions needed for protein folding and stabilization
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