General description
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)
Immunogen
AIPL1 (AAH12055, 1 a.a. ~ 384 a.a) full-length recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Sequence
MDAALLLNVEGVKKTILHGGTGELPNFITGSRVIFHFRTMKCDEERTVIDDSRQVGQPMHIIIGNMFKLEVWEILLTSMRVHEVAEFWCDTIHTGVYPILSRSLRQMAQGKDPTEWHVHTCGLANMFAYHTLGYEDLDELQKEPQPLVFVIELLQVDAPSDYQRETWNLSNHEKMKAVPVLHGEGNRLFKLGRYEEASSKYQEAIICLRNLQTKEKPWEVQWLKLEKMINTLILNYCQCLLKKEEYYEVLEHTSDILRHHPGIVKAYYVRARAHAEVWNEAEAKADLQKVLELEPSMQKAVRRELRLLENRMAEKQEEERLRCRNMLSQGATQPPAEPPTEPPAQSSTEPPAEPPTAPSAELSAGPPAEPATEPPPSPGHSLQH
Features and Benefits
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Physical form
Solution in phosphate buffered saline, pH 7.4
| biological source | mouse |
| Quality Level | 100 |
| conjugate | unconjugated |
| antibody form | purified immunoglobulin |
| antibody product type | primary antibodies |
| clone | 1E1, monoclonal |
| form | buffered aqueous solution |
| species reactivity | human |
| technique(s) | immunofluorescence: suitable,indirect ELISA: suitable,western blot: 1-5 μg/mL |
| isotype | IgG2aκ |
| UniProt accession no. | Q9NZN9 |
| shipped in | dry ice |
| storage temp. | −20°C |
| target post-translational modification | unmodified |
| Gene Information | human ... AIPL1(23746) |
