AIPL1 Antibody - N-terminal region
Artikelnummer:
ASB-ARP96760_P050
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| Artikelname: | AIPL1 Antibody - N-terminal region |
| Artikelnummer: | ASB-ARP96760_P050 |
| Hersteller Artikelnummer: | ARP96760_P050 |
| Alternativnummer: | ASB-ARP96760_P050-25UL,ASB-ARP96760_P050-100UL |
| Hersteller: | Aviva |
| Wirt: | Rabbit |
| Kategorie: | Proteine/Peptide |
| Applikation: | WB |
| Spezies Reaktivität: | Human |
| Immunogen: | The immunogen is a synthetic peptide directed towards the N terminal region of human AIPL1 |
| Alternative Synonym: | LCA4, AIPL2 |
| 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. |
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