Recombinant Human Aryl-hydrocarbon-interacting protein-like 1 (AIPL1)

Uniprot Id

Q9NZN9

Target Species

Human

Target Name

AIPL1

Target Full Name

Aryl-hydrocarbon-interacting protein-like 1

Target Function

May be important in protein trafficking and/or protein folding and stabilization.

Target Involvement

Leber congenital amaurosis 4 (LCA4)

Target Subcellular Location

Cytoplasm. Nucleus.

Target Tissue Specificity

Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina.

Target Research Area

Signal Transduction

Target Synonyms

A930007I01Rik; Aipl1; AIPL1_HUMAN; AIPL2; Aryl hydrocarbon interacting protein like 1; Aryl hydrocarbon receptor interacting protein like 1; Aryl-hydrocarbon-interacting protein-like 1; LCA4; MGC25485; OTTHUMP00000128207; OTTMUSP00000006382; RP23-401C17.1

Target Background

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.