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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Pack Size | 100ul, 1ml, 20ul |
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Applications | ELISA, IF/ICC, WB |
Host Species | Rabbit |
Ig Isotype | IgG |
Antibody Type | Polyclonal Antibody |
Organism Species | Human |
Product Synonyms | AIPL1 |
Observed Mol Wt | 44kDa |
Alternative Names | LCA4; AIPL2; AIPL1 |
Immunogen (Antigen) | Recombinant protein |
Format | Liquid |
Buffer Formulation | 50% glycerol, PBS with 0.02% sodium azide, pH7.3 |
Reactivity | Human, Mouse, Rat |
Uniprot ID | 23746 |
Gene ID | Q9NZN9 |
Purification | Antigen-specific affinity chromatography followed by Protein A affinity chromatography |
Usage | For Research Use Only. Not for diagnostics or human use. |
Shelf Life | 12 months at time of shipping |
Shipping | Shipped in Dry Ice at -20 Degree Celsius |
Storage | Store at -20 Degree Celsius. It is recommended to aliquot and store to avoid repeated freeze-thaw as it affects the stability of the antibody. |
Research Areas | Cancer; Cell Biology; Immunology; Neuroscience; |
KD/KO Validated | KD Validated |
Disclaimer | The data indicated herein are as indicated and validated in our laboratory. These reagents are for research use only and not for in-vitro diagnostics or human use. |
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