AIPL1 Rabbit pAb

Polyclonal Antibodies

Store at -20°C. Avoid freeze / thaw cycles.|Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

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.

Recombinant fusion protein containing a sequence corresponding to amino acids 1-384 of human AIPL1 (NP_055151.3).

44kDa

Epigenetics Nuclear Signaling, Signal Transduction, Endocrine Metabolism, Mitochondrial metabolism, Neuroscience.

23746

AIPL1