Aliases for AIPL1 Gene
External Ids for AIPL1 Gene
Previous HGNC Symbols for AIPL1 Gene
Previous GeneCards Identifiers for AIPL1 Gene
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]
GeneCards Summary for AIPL1 Gene
AIPL1 (Aryl Hydrocarbon Receptor Interacting Protein Like 1) is a Protein Coding gene. Diseases associated with AIPL1 include Leber Congenital Amaurosis 4 and Leber Congenital Amaurosis. Among its related pathways are Aldosterone synthesis and secretion. Gene Ontology (GO) annotations related to this gene include unfolded protein binding and farnesylated protein binding. An important paralog of this gene is AIP.
UniProtKB/Swiss-Prot Summary for AIPL1 Gene
May be important in protein trafficking and/or protein folding and stabilization.