AIPL1 Rabbit pAb
Target | AIPL1 |
---|---|
Product Type | Antibody |
Application | ICC, IF, WB |
Clonality | Polyclonal |
Isotype | IgG |
Immunogen | Recombinant fusion protein containing a sequence corresponding to amino acids 1-384 of human AIPL1 (NP_055151.3). |
Host Species | Rabbit |
Species Reactivity | Human, Mouse |
Formulation | PBS with 0.02% sodium azide,50% glycerol |
Research Area | Cancer, Immunology, Metabolism |
Description/Background | 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. |
Protocols | ICC, IF, WB |
Molecular Weight | 44kDa |
Purity | Affinity purification |
Regulatory Statement | For Research Use Only. Not for use in diagnostic procedures. |