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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for AIPL1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID23746
Official gene symbolAIPL1
Full namearyl hydrocarbon receptor interacting protein-like 1
Aliases,AIPL2,LCA4,
Gene summaryLeber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA. [provided by RefSeq]
LocationChromosome: 17   Locus: 17p13.1
Gene position6338519 - 6327059  Map Viewer
Gene orientationminus
Gene size11461 bp
Gene sequence
OMIM ID604392