Full Product Name
Anti-AIPL1 Antibody
Product Gene Name
anti-AIPL1 antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Species Reactivity
Human. Predicted: Mouse, Rat. Not yet tested in other species.
Purity/Purification
Affinity purified
Concentration
100ug/100ul (lot specific)
Storage Buffer
PBS, pH 7.4 with 0.02% Sodium Azide
Preparation and Storage
This product is stable for several weeks at 4 degree C as an undiluted liquid. Dilute only prior to immediate use. For extended storage, aliquot contents and freeze at -20 degree C or below. Avoid cycles of freezing and thawing. Expiration date is one (1) year from date of receipt.
Other Notes
Small volumes of anti-AIPL1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Related Product Information for
anti-AIPL1 antibody
May be important in protein trafficking and/or protein folding and stabilization.
Applications Tested/Suitable for anti-AIPL1 antibody
ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)
Application Notes for anti-AIPL1 antibody
ELISA titer: 1:20,000-1:80,000
Western blot analysis: 1:1,000-1:2,000
Immunohistochemistry: 1:100-1:500
Optimal dilutions/concentrations should be determined by the end user
Immunohistochemistry (IHC) of anti-AIPL1 antibody
NCBI/Uniprot data below describe general gene information for AIPL1. It may not necessarily be applicable to this product.
NCBI Accession #
NP_001028227.1
[Other Products]
NCBI GenBank Nucleotide #
NM_001033055.2
[Other Products]
UniProt Secondary Accession #
Q659W3; Q659W4; Q6ZZB6; Q8N6A0; Q9H873; Q9NS10; D3DTM4[Other Products]
UniProt Related Accession #
Q9NZN9[Other Products]
Molecular Weight
40,901 Da
NCBI Official Full Name
aryl-hydrocarbon-interacting protein-like 1 isoform 3
NCBI Official Synonym Full Names
aryl hydrocarbon receptor interacting protein-like 1
NCBI Official Symbol
AIPL1 [Similar Products]
NCBI Official Synonym Symbols
LCA4; AIPL2
[Similar Products]
NCBI Protein Information
aryl-hydrocarbon-interacting protein-like 1
UniProt Protein Name
Aryl-hydrocarbon-interacting protein-like 1
Protein Family
Aryl-hydrocarbon-interacting protein
UniProt Gene Name
AIPL1 [Similar Products]
UniProt Entry Name
AIPL1_HUMAN
NCBI Summary for AIPL1
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 Comments for AIPL1
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: Apoptosis; Chaperone
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; protein folding; visual perception; regulation of cGMP metabolic process; negative regulation of apoptosis
Disease: Leber Congenital Amaurosis 4; Retinitis Pigmentosa
Product References and Citations for anti-AIPL1 antibody
(1) Jacobson,S.G., Cideciyan,A.V., Aleman,T.S., et al. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining. Invest. Ophthalmol. Vis. Sci. 52 (1), 70-79 (2011)
Research Articles on AIPL1
1. Mutations in the AIPL1 and RDH12 genes associated with leber congenital amaurosis in two Turkish families.
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.
It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
