RLBP1
The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq]
Full Name
retinaldehyde binding protein 1
Function
Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'.
Biological Process
Biological Process response to stimulusIEA:UniProtKB-KW
Biological Process visual perceptionManual Assertion Based On ExperimentTAS:ProtInc
Biological Process vitamin A metabolic processManual Assertion Based On ExperimentTAS:ProtInc
Biological Process visual perceptionManual Assertion Based On ExperimentTAS:ProtInc
Biological Process vitamin A metabolic processManual Assertion Based On ExperimentTAS:ProtInc
Cellular Location
Cytoplasm
Involvement in disease
Bothnia retinal dystrophy (BRD):
A type of retinitis punctata albescens. Affected individuals show night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration.
Rod-cone dystrophy Newfoundland (NFRCD):
A rod-cone dystrophy reminiscent of retinitis punctata albescens but with a substantially lower age at onset and more-rapid and distinctive progression. Rod-cone dystrophies results from initial loss of rod photoreceptors, later followed by cone photoreceptors loss.
Retinitis punctata albescens (RPA):
A form of fleck retina disease characterized by aggregation of white flecks posteriorly in the retina, causing night blindness and delayed dark adaptation. It differs from fundus albipunctatus in being progressive and evolving to generalized atrophy of the retina.
A type of retinitis punctata albescens. Affected individuals show night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration.
Rod-cone dystrophy Newfoundland (NFRCD):
A rod-cone dystrophy reminiscent of retinitis punctata albescens but with a substantially lower age at onset and more-rapid and distinctive progression. Rod-cone dystrophies results from initial loss of rod photoreceptors, later followed by cone photoreceptors loss.
Retinitis punctata albescens (RPA):
A form of fleck retina disease characterized by aggregation of white flecks posteriorly in the retina, causing night blindness and delayed dark adaptation. It differs from fundus albipunctatus in being progressive and evolving to generalized atrophy of the retina.
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Anti-RLBP1 antibodies
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Target: RLBP1
Host: Mouse
Antibody Isotype: IgG
Specificity: Mouse, Rat, Human
Clone: CBWJC-4378
Application*: WB, IP, IF, E
Target: RLBP1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBFYC-3081
Application*: WB, F, IH, P
Target: RLBP1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Mouse, Rat
Clone: CBFYC-3080
Application*: WB, IP
Target: RLBP1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human, Mouse, Rat, Cattle, Pig, Monkey
Clone: B2
Application*: IC, IF, C, P, WB
Target: RLBP1
Host: Mouse
Specificity: Human
Clone: CBCNC-698
Application*: WB, ICC, P, IH-F, E
Target: RLBP1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 5G2
Application*: WB
Target: RLBP1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 4H5
Application*: E, IF, WB
Target: RLBP1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 2A5
Application*: WB
Target: RLBP1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: 1H5
Application*: WB
Target: RLBP1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: 1G6
Application*: WB, IH, F
Target: RLBP1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 1F5
Application*: WB
Target: RLBP1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 1B4
Application*: WB
Target: RLBP1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse, Rat
Clone: 13A14
Application*: IP, WB
Target: RLBP1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 10A10
Application*: WB, IP
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For Research Use Only. Not For Clinical Use.
(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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