Testing Data
Rabbit AIPL1 Polyclonal Antibody | anti-AIPL1 antibody
AIPL1 Antibody
IHC: 1:20-1:200
Testing Data
Testing Data
NCBI and Uniprot Product Information
NCBI Description
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. [provided by RefSeq, Jan 2014]
Uniprot Description
AIPL1: May be important in protein trafficking and/or protein folding and stabilization. Defects in AIPL1 are the cause of Leber congenital amaurosis type 4 (LCA4). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Chaperone; Apoptosis
Chromosomal Location of Human Ortholog: 17p13.1
Cellular Component: photoreceptor inner segment; cytoplasm; nucleus
Molecular Function: farnesylated protein binding; protein binding; unfolded protein binding
Biological Process: phototransduction, visible light; retinal homeostasis; protein farnesylation; visual perception; protein folding; regulation of cGMP metabolic process; negative regulation of apoptosis
Disease: Leber Congenital Amaurosis 4; Retinitis Pigmentosa
Research Articles on AIPL1
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Product Notes
The AIPL1 aipl1 (Catalog #AAA2526954) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The AIPL1 Antibody reacts with Human, Mouse, Rat and may cross-react with other species as described in the data sheet. AAA Biotech's AIPL1 can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC). WB: 1:200-1:2000 IHC: 1:20-1:200. Researchers should empirically determine the suitability of the AIPL1 aipl1 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "AIPL1, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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