|Other Names||Aryl-hydrocarbon-interacting protein-like 1, AIPL1, AIPL2|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||May be important in protein trafficking and/or protein folding and stabilization.|
|Cellular Location||Cytoplasm. Nucleus|
|Tissue Location||Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina.|
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Leber congenital amaurosis (LCA) accounts for at least 5%of all inherited retinal disease and is the most severe inheritedretinopathy with the earliest age of onset. Individuals affectedwith LCA are diagnosed at birth or in the first few months of lifewith severely impaired vision or blindness, nystagmus and anabnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interactingprotein-like 1, was mapped within the LCA4 candidate region. Theprotein contains three tetratricopeptide motifs, consistent withnuclear transport or chaperone activity. AIPL1 mutations may causeapproximately 20% of recessive LCA.
Pasadhika, S., et al. Invest. Ophthalmol. Vis. Sci. 51(5):2608-2614(2010)Kirschman, L.T., et al. Hum. Mol. Genet. 19(6):1076-1087(2010)Sundaresan, P., et al. Mol. Vis. 15, 1781-1787 (2009) :Hidalgo-de-Quintana, J., et al. Invest. Ophthalmol. Vis. Sci. 49(7):2878-2887(2008)Booij, J.C., et al. J. Med. Genet. 42 (11), E67 (2005) :
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