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]
Full Name
Aryl Hydrocarbon Receptor Interacting Protein Like 1
Function
May be important in protein trafficking and/or protein folding and stabilization.
Biological Process
Negative regulation of apoptotic process Source: Ensembl
Phototransduction, visible light Source: Ensembl
Protein farnesylation Source: MGI
Regulation of rhodopsin mediated signaling pathway Source: Ensembl
Retina homeostasis Source: Ensembl
Visual perception Source: ProtInc
Cellular Location
Nucleus; Cytoplasm
Involvement in disease
Leber congenital amaurosis 4 (LCA4): A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
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Anti-AIPL1 antibodies

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Mouse Anti-AIPL1 Recombinant Antibody (V2-180366) (CBMAB-A1835-YC)

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Target: AIPL1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: V2-180366
Application*: F, IF, IH, WB
Datasheet SDS

Mouse Anti-AIPL1 Recombinant Antibody (V2-180365) (CBMAB-A1834-YC)

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Target: AIPL1
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: V2-180365
Application*: E, IP
Datasheet SDS

Mouse Anti-AIPL1 Recombinant Antibody (V2-180364) (CBMAB-A1833-YC)

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Target: AIPL1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: V2-180364
Application*: F, IF, WB
Datasheet SDS

Mouse Anti-AIPL1 Recombinant Antibody (V2-180363) (CBMAB-A1832-YC)

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Target: AIPL1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Dog, Rat, Monkey
Clone: V2-180363
Application*: WB, IF, F
Datasheet SDS

Mouse Anti-AIPL1 Recombinant Antibody (V2-180362) (CBMAB-A1831-YC)

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Target: AIPL1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: V2-180362
Application*: E, P, WB, IF
Datasheet SDS

Mouse Anti-AIPL1 Recombinant Antibody (V2-180361) (CBMAB-A1830-YC)

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Target: AIPL1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: V2-180361
Application*: WB, IF, F
Datasheet SDS

AIPL1 Matched Antibody Pair (043) (APMAB-043LY)

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Target: AIPL1
Specificity: Human
Datasheet SDS

AIPL1 Matched Antibody Pair (042) (APMAB-042LY)

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Target: AIPL1
Specificity: Human
Datasheet SDS
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(P): Predicted
* Abbreviations
  • AActivation
  • AGAgonist
  • APApoptosis
  • BBlocking
  • BABioassay
  • BIBioimaging
  • CImmunohistochemistry-Frozen Sections
  • CIChromatin Immunoprecipitation
  • CTCytotoxicity
  • CSCostimulation
  • DDepletion
  • DBDot Blot
  • EELISA
  • ECELISA(Cap)
  • EDELISA(Det)
  • ESELISpot
  • EMElectron Microscopy
  • FFlow Cytometry
  • FNFunction Assay
  • GSGel Supershift
  • IInhibition
  • IAEnzyme Immunoassay
  • ICImmunocytochemistry
  • IDImmunodiffusion
  • IEImmunoelectrophoresis
  • IFImmunofluorescence
  • IGImmunochromatography
  • IHImmunohistochemistry
  • IMImmunomicroscopy
  • IOImmunoassay
  • IPImmunoprecipitation
  • ISIntracellular Staining for Flow Cytometry
  • LALuminex Assay
  • LFLateral Flow Immunoassay
  • MMicroarray
  • MCMass Cytometry/CyTOF
  • MDMeDIP
  • MSElectrophoretic Mobility Shift Assay
  • NNeutralization
  • PImmunohistologyp-Paraffin Sections
  • PAPeptide Array
  • PEPeptide ELISA
  • PLProximity Ligation Assay
  • RRadioimmunoassay
  • SStimulation
  • SESandwich ELISA
  • SHIn situ hybridization
  • TCTissue Culture
  • WBWestern Blot
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