Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
Symbol AIPL1 contributors: shn/pgu - updated : 18-10-2017
HGNC name aryl hydrocarbon receptor interacting protein-like 1
HGNC id 359
  • 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