AIPL1 293T Cell Transient Overexpression Lysate(Denatured)
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Specification
Transfected Cell Line
293T
Plasmid
pCMV-AIPL1 full-length
Host
Human
Theoretical MW (kDa)
42.35
Interspecies Antigen Sequence
Mouse (87); Rat (87)
Quality Control Testing
Transient overexpression cell lysate was tested with Anti-AIPL1 antibody (H00023746-B01) by Western Blots.
SDS-PAGE Gel
AIPL1 transfected lysate.
Western Blot
Lane 1: AIPL1 transfected lysate ( 42.35 KDa)
Lane 2: Non-transfected lysate.Storage Buffer
1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue)
Storage Instruction
Store at -80°C. Aliquot to avoid repeated freezing and thawing.
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Applications
Western Blot
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Gene Info — AIPL1
Entrez GeneID
23746GeneBank Accession#
NM_014336.3Protein Accession#
NP_055151.3Gene Name
AIPL1
Gene Alias
AIPL2, LCA4
Gene Description
aryl hydrocarbon receptor interacting protein-like 1
Gene Ontology
HyperlinkGene Summary
Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA. [provided by RefSeq
Other Designations
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Interactome
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Disease
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