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.

Pack Size

100ul, 1ml, 20ul

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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