AIPL1
aryl hydrocarbon receptor interacting protein-like 1
Sinónimos:
AIPL2, LCA4
Especie:
Human AIPL1 (23746), Mouse Aipl1 (114230), Rat Aipl1 (59110), domestic guinea pig Aipl1 (100722990), domestic cat AIPL1 (101089053), dog AIPL1 (489447), naked mole-rat Aipl1 (101707637), sheep AIPL1 (101104920), chicken AIPL1 (769785), cow AIPL1 (281609)
ID UniProtKB:
ID del gen:
- Human(23746) Summary: Leber 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, Jul 2008]
- Mouse(114230) aryl hydrocarbon receptor-interacting protein-like 1
- Rat(59110) aryl hydrocarbon receptor-interacting protein-like 1
- domestic guinea pig(100722990) aryl hydrocarbon receptor interacting protein-like 1
- domestic cat(101089053) aryl hydrocarbon receptor interacting protein-like 1
- dog(489447) aryl hydrocarbon receptor interacting protein-like 1
- naked mole-rat(101707637) aryl hydrocarbon receptor interacting protein-like 1
- sheep(101104920) aryl hydrocarbon receptor interacting protein-like 1
- chicken(769785) aryl hydrocarbon receptor interacting protein-like 1
- cow(281609) aryl hydrocarbon receptor interacting protein-like 1
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