Name

AIPL1 Gene

aryl hydrocarbon receptor interacting protein-like 1

Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

aipl1 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term aipl1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

AIPL1 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for AIPL1 from the Pathway Commons Protein-Protein Interactions dataset.