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FLASH GENE
Symbol AIPL1 contributors: shn/pgu - updated : 18-11-2011
HGNC name aryl hydrocarbon receptor interacting protein-like 1
HGNC id 359
ASSOCIATED DISORDERS
corresponding disease(s) LCA4
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
juvenile RP or cone-rod dystrophy
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
neurosensorialvisualretina
. strong and stable rescue retinal degeneration in Aipl1 null and Aipl1 hypomorphic (Aipl1hypo) mutant mice using AAV8 vector containing the human RK promoter, which is only active in both types of photoreceptors
ANIMAL & CELL MODELS
  • Aipl1-/- mice have highly disorganized, short, fragmented photoreceptor outer segments and lack both rod and cone electroretinogram responses
  • knockdown of AIPL1 expression in mice produces a retinopathy with a reduction in the level of rod cGMP phosphodiesterase expression
  • Aipl1-/- mouse displays rapid retinal degeneration and massive Müler cell gliosis
  • mouse with rods expressing lowered amounts of AIPL1 delayed the photoresponse, decreased its amplification constant, slowed a rate-limiting step in its recovery, and limited the light-induced decrease in Ca2
  • in mice lacking endogenous Aipl1, rod-specific expression of hAIPL1 protein completely rescues rod outer segment ultrastructure
  • restoration of cellular function and preservation of photoreceptor cells and retinal function in Aipl1 h/h mice following gene replacement therapy using an AAV2/2 vector and in the light accelerated Aipl1 h/h model and Aipl1-/- mice using an AAV2/8 vector