AIPL1 antibody

Catalog Number:

38935

Amount:

100μg

Price:

$319

Swiss-Prot No:

Swiss-Prot#: Q9NZN9
NCBI Gene ID: 23746

Form of Antibody:

Supplied at 1.0mg/mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.

Storage/Stability:

Immunogen:

Recombinant protein of human AIPL1.

Purification:

Antibodies were purified by affinity purification using immunogen.

Specificity/Sensitivity:

The antibody detects endogenous level of total AIPL1 antibody.

Applications:

WB IF

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.

References:

appl_detail:

Western blotting: 1:500 - 1:2000
Immunofluorescence: 1:50 - 1:100

Datasheet PDF