MONOCLONAL ANTI-AIPL1, (N-TERMINAL)

Description_x000D_ General description_x000D_ Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA. (provided by RefSeq)_x000D_ Immunogen_x000D_ AIPL1 (NP_055151.3, 1 a.a. ~ 101 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa._x000D_ Sequence_x000D_ MDAALLLNVEGVKKTILHGGTGELPNFITGSRVIFHFRTMKCDEERTVIDDSRQVGQPMHIIIGNMFKLEVWEILLTSMRVHEVAEFWCDTIHTGVYPILS_x000D_ Physical form_x000D_ Solution in phosphate buffered saline, pH 7.4