AIPL1 Antibody – Rabbit Polyclonal

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: May be important in protein trafficking and/or protein folding and stabilization. Defects in AIPL1 are the cause of Leber congenital amaurosis type 4 (LCA4). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Apoptosis; Chaperone

Chromosomal Location of Human Ortholog: 17p13.1

Cellular Component: cytoplasm; nucleus; photoreceptor inner segment

Molecular Function: farnesylated protein binding; protein binding; unfolded protein binding

Biological Process: negative regulation of apoptosis; phototransduction, visible light; protein farnesylation; protein folding; regulation of cGMP metabolic process; retinal homeostasis; visual perception

Disease: Leber Congenital Amaurosis 4; Retinitis Pigmentosa