AIPL1 Products

Description

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]

Bioinformatics

Entrez	23746 Human
Uniprot	AAH12055 Human NM_014336 Human NP_055151 Human NP_055151.3 Human Q9NZN9 Human
Product By Gene ID	23746
Alternate Names	AIPL2 aryl hydrocarbon receptor interacting protein-like 1 aryl hydrocarbon receptor-interacting protein-like 1 aryl-hydrocarbon-interacting protein-like 1 LCA4

Research Areas for AIPL1

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Vision