Affinage

Showing RLBP1 — CRALBP is a alias.

RLBP1

Retinaldehyde-binding protein 1 · UniProt P12271

Length
317 aa
Mass
36.5 kDa
Annotated
2026-06-10
52 papers in source corpus 19 papers cited in narrative 19 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

RLBP1 encodes CRALBP, a retinoid-binding protein that serves as the acceptor of 11-cis-retinol in the visual cycle, where it drives regeneration of visual chromophore and dark adaptation; its loss in knockout mice causes a >10-fold delay in rhodopsin regeneration and 11-cis-retinal production with accumulation of all-trans-retinyl esters, marking impaired isomerization (PMID:11301032). CRALBP binds retinoid within a hydrophobic cavity defined by residues spanning Tyr179 through Met225, a pocket whose occupancy by 11-cis-retinal protects the bound ligand from solvent exchange (PMID:15100222). Functionally, it augments RPE65 isomerase activity and facilitates oxidation of 11-cis-retinol to 11-cis-retinal while maintaining the 11-cis configuration (PMID:32188692), and it sequesters retinoid to control its availability as enzymatic substrate, inhibiting RDH12-mediated reduction of 11-cis-retinal (PMID:15865448). CRALBP operates in two distinct cellular pools: the RPE-expressed protein plays the dominant role in bulk rod and cone chromophore regeneration, while the Müller-glia pool drives the intraretinal visual cycle supporting cone function (PMID:25607845, PMID:38676924), with Müller-cell CRALBP also transporting 11-cis-retinal to ipRGCs for sustained melanopsin photoresponses (PMID:32841098). RLBP1 expression is transcriptionally controlled by MITF and Pax6 acting on its promoter (PMID:26876013, PMID:21996446), and by an HSP90–SP1 axis in RPE cells (PMID:36826429). The human pathogenic p.R151Q mutation fails to rescue visual deficits in a zebrafish complementation assay, linking RLBP1 dysfunction to inherited retinal disease (PMID:40552921).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 2001 High

    Established CRALBP's core physiological role: it was unknown whether CRALBP was essential for chromophore regeneration, and the knockout fixed it as the in vivo acceptor of 11-cis-retinol whose absence stalls isomerization.

    Evidence Rlbp1 knockout mouse with ERG, dark adaptation, and retinoid HPLC

    PMID:11301032

    Open questions at the time
    • Did not resolve which cellular pool (RPE vs Müller glia) is responsible
    • Mechanism of how CRALBP promotes isomerization not defined at molecular level
  2. 2004 High

    Defined the structural basis of retinoid binding: the location of the ligand cavity was unknown, and photoaffinity labeling plus H/D exchange mapped the hydrophobic pocket residues that engage 11-cis-retinal.

    Evidence Photoaffinity labeling, LC-MS/MS, and H/D exchange mass spectrometry

    PMID:15100222

    Open questions at the time
    • No high-resolution crystal structure of the human protein with bound ligand
    • Conformational dynamics of binding/release not directly observed
  3. 2005 Medium

    Clarified that CRALBP shapes enzymatic substrate flux by sequestration, showing it inhibits RDH12 reduction of 11-cis-retinal more than oxidation of 11-cis-retinol, consistent with its binding preference.

    Evidence In vitro enzyme kinetics with purified RDH12 ± CRALBP

    PMID:15865448

    Open questions at the time
    • Single in vitro reconstitution, single lab
    • Physiological relevance of RDH12 interaction in vivo not tested
  4. 2005 Low

    Linked disease mutations to ligand binding computationally, predicting that pathology-associated residues cluster near the cavity and that a lipid-exchange loop governs retinoid release.

    Evidence Homology modeling and molecular dynamics simulation

    PMID:16121400

    Open questions at the time
    • Computational only, no experimental validation in this study
    • Predicted hinge residues not mutated and tested
  5. 2008 Medium

    Revealed cell-type partitioning of CRALBP function through evolutionary divergence, showing zebrafish paralogs in Müller glia vs RPE both independently contribute to cone vision.

    Evidence In situ hybridization, morpholino knockdown, optokinetic response in zebrafish

    PMID:18502992

    Open questions at the time
    • Morpholino approach prone to off-target effects
    • Did not quantify retinoid changes per pool
  6. 2015 High

    Dissected the Müller-cell-specific role in vivo, demonstrating that CRALBP restoration in Müller cells but not RPE rescues the intraretinal visual cycle and M-cone function.

    Evidence Cell-type-specific AAV rescue in Rlbp1-/- mice; ERG, opsin immunolocalization, behavior

    PMID:25607845

    Open questions at the time
    • Did not quantify relative magnitude of RPE vs Müller contribution to bulk regeneration
    • Mechanism of cone-specific dependence unresolved
  7. 2020 Medium

    Defined the biochemical mechanism of CRALBP support for isomerization, showing it augments RPE65 isomerase activity and facilitates 11-cis-retinol oxidation while protecting the 11-cis configuration.

    Evidence Rlbp1/Cralbp-/- mice; retinoid quantification, qAF, SD-OCT, ERG

    PMID:32188692

    Open questions at the time
    • Direct physical interaction with RPE65 not structurally resolved
    • Single lab
  8. 2020 Medium

    Established Müller-cell CRALBP dosage as rate-limiting for the cone visual cycle and uncovered a CRALBP-independent shunt enabling residual cone dark adaptation.

    Evidence Rlbp1+/- and Rlbp1-/- mice with pharmacologic RPE cycle blockade; ERG

    PMID:33216847

    Open questions at the time
    • Molecular identity of the CRALBP-independent shunt unknown
    • Single lab
  9. 2020 Medium

    Extended CRALBP function to the inner retina, showing Müller-glia CRALBP transports 11-cis-retinal to ipRGCs to sustain melanopsin photoresponses.

    Evidence Conditional Müller-cell rlbp1 KO; multielectrode-array ipRGC recordings; pupillary light reflex

    PMID:32841098

    Open questions at the time
    • Route of chromophore delivery to ipRGCs not directly visualized
    • Single lab
  10. 2024 High

    Resolved the relative dominance of the two pools, showing RPE-expressed CRALBP is dominant for bulk rod and cone chromophore regeneration while the Müller pool contributes mildly.

    Evidence RPE-specific and Müller-glia-specific conditional CRALBP KO mice; ERG, retinoid HPLC, light damage

    PMID:38676924

    Open questions at the time
    • Apparent tension with earlier Müller-cell rescue data not fully reconciled
    • Quantitative cone-specific contributions still being refined
  11. 2024 Medium

    Identified molecular heterogeneity of CRALBP, revealing a smaller isoform from an alternative methionine start expressed differentially in human and mouse retina.

    Evidence iPSC-derived RPE from RLBP1-IRD patients; Rlbp1-/- mice; AAV2/5 supplementation; Western blot

    PMID:39385467

    Open questions at the time
    • Functional role of the smaller isoform not defined
    • Subcellular localization and binding properties of isoform unknown
  12. 2025 High

    Provided mutation-specific causal evidence linking RLBP1 to inherited retinal disease, showing the human p.R151Q variant fails to rescue dim-light vision in a zebrafish complementation assay.

    Evidence CRISPR rlbp1b-/- zebrafish; retinoid HPLC; optokinetic response; transgenic complementation; proteomics

    PMID:40552921

    Open questions at the time
    • Biochemical defect imposed by p.R151Q not directly characterized
    • Other pathogenic variants not tested in this assay
  13. 2026 Medium

    Demonstrated therapeutic potential by using chromophore-loaded CRALBP, including a redox-sensitive mutant, to deliver visual chromophore and restore rod function in RPE65-deficient mice.

    Evidence In vitro retina treatment and intravitreal injection of chromophore-loaded CRALBP in RPE65-KO mice; ERG; mutagenesis

    PMID:42137266

    Open questions at the time
    • Durability and safety of delivery not established
    • Single lab

Open questions

Synthesis pass · forward-looking unresolved questions
  • The molecular identity of the CRALBP-independent cone-regeneration shunt and the functional role of the smaller CRALBP isoform remain unresolved.
  • No structural model of human CRALBP with bound ligand in the timeline
  • Mechanism by which CRALBP physically engages RPE65 not defined
  • Functional consequence of the alternative-start isoform unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0008289 lipid binding 3 GO:0140104 molecular carrier activity 2 GO:0140313 molecular sequestering activity 2
Pathway
R-HSA-9709957 Sensory Perception 3 R-HSA-1430728 Metabolism 2
Partners
HSP90RDH12RPE65SP1

Evidence

Reading pass · 19 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2001 CRALBP (RLBP1) functions as an acceptor of 11-cis-retinol in the isomerization reaction of the visual cycle. Rlbp1-/- knockout mice showed >10-fold delay in rhodopsin regeneration, 11-cis-retinal production, and dark adaptation after illumination, with accumulation of all-trans-retinyl esters indicating impaired isomerization of all-trans- to 11-cis-retinol. Rlbp1 knockout mouse model; ERG, dark adaptation measurements, retinoid HPLC analysis Neuron High 11301032
2004 The ligand-binding cavity of CRALBP involves residues Tyr179, Phe197, Cys198, Met208, Lys221, Met222, Val223, and Met225, identified by photoaffinity labeling with 3-diazo-4-keto-11-cis-retinal. Hydrogen/deuterium exchange showed residues 198-255 incorporate significantly less deuterium when the retinoid-binding pocket is occupied with 11-cis-retinal, defining the hydrophobic ligand-binding region. Photoaffinity labeling with 3-diazo-4-keto-11-cis-retinal; LC-MS/MS; hydrogen/deuterium exchange mass spectrometry; structural modeling based on CRAL-TRIO family crystal structures The Journal of biological chemistry High 15100222
2005 CRALBP inhibits RDH12-mediated reduction of 11-cis-retinal more strongly than oxidation of 11-cis-retinol, consistent with CRALBP's higher binding affinity for 11-cis-retinal than 11-cis-retinol. CRALBP acts by sequestering the bound form of retinoids, making them unavailable as substrates for RDH12. In vitro enzyme activity assay of purified RDH12 with and without CRALBP; kinetic analysis Biochemistry Medium 15865448
2005 Homology modeling and molecular dynamics of CRALBP revealed that pathology-associated mutations map directly into or adjacent to the putative ligand-binding cavity, and that binding/release of retinoid involves large conformational changes in a lipid-exchange loop at the entrance of the ligand-binding cavity. Six novel residues were identified as crucial for hinge movement of this loop. Homology modeling; molecular dynamics simulation Proteins Low 16121400
2008 Zebrafish possess two CRALBP paralogs (rlbp1a and rlbp1b) that have functionally diverged: rlbp1a is expressed in Müller glia and rlbp1b in the RPE. Morpholino-mediated depletion of either RPE-CRALBP or Müller glia-CRALBP independently results in abnormal cone visual behavior, demonstrating that both cellular pools contribute to cone vision. In situ hybridization; immunohistochemistry; antisense morpholino knockdown; optokinetic response assay in zebrafish larvae Investigative ophthalmology & visual science Medium 18502992
2015 CRALBP expression specifically in Müller cells (not RPE cells) is required for the retinal (intraretinal) visual cycle and M-cone sensitivity. AAV-mediated restoration of CRALBP in Müller cells, but not RPE cells, rescued the retinal visual cycle and M-cone sensitivity in Rlbp1-/- mice. Additionally, M-opsin mislocalization and M-cone loss occur in CRALBP-deficient mice, and cone dark adaptation is impaired even in dark-reared knockouts. Rlbp1-/- knockout mice; cell-type-specific AAV rescue; ERG; opsin immunolocalization; behavioral visual testing The Journal of clinical investigation High 25607845
2016 The microphthalmia-associated transcription factor MITF directly regulates RLBP1 expression in the RPE. CRALBP and RDH5 are downregulated in Mitf-deficient mouse embryo optic cups; experimental manipulation of MITF levels in human RPE cells correspondingly modulates RLBP1 protein levels; and retinal degeneration in Mitf-deficient mice can be partially corrected by exogenous 9-cis-retinal. Mitf knockout mouse embryos; MITF overexpression/knockdown in human RPE cells; Western blot; rescue with exogenous retinoid Scientific reports Medium 26876013
2011 Transcription factor Pax6 directly binds the CRALBP promoter and positively regulates CRALBP protein expression. CRALBP expression is completely abolished in Pax6-/- mutants, and ChIP and luciferase reporter assays confirm direct promoter binding and transactivation by Pax6. In situ hybridization; immunohistochemistry in Pax6-/- mutant mice; ChIP assay; luciferase reporter assay Biochimica et biophysica acta Medium 21996446
2020 CRALBP augments the isomerase activity of RPE65 and facilitates 11-cis-retinol oxidation to 11-cis-retinal, and also maintains the 11-cis configuration and protects against unwanted retinaldehyde activity. In Rlbp1/Cralbp-/- mice, reduced 11-cis-retinal levels and photoreceptor loss are consistent with human RLBP1 mutation phenotypes. Rlbp1/Cralbp-/- mice; retinoid quantification; quantitative fundus autofluorescence; SD-OCT; ERG The Journal of biological chemistry Medium 32188692
2020 CRALBP expression level specifically in Müller cells modulates the efficiency of the retinal (intraretinal) visual cycle for cones. In Rlbp1+/- mice with ~50% reduced CRALBP in both RPE and retina, pharmacologic blockade of the RPE visual cycle revealed suppressed cone dark adaptation compared to controls, indicating that Müller-cell CRALBP level is rate-limiting for the retinal visual cycle. Furthermore, blocking the RPE visual cycle in Rlbp1-/- mice revealed a CRALBP-independent shunt that allows partial but rapid cone dark adaptation. Rlbp1+/- and Rlbp1-/- mice; pharmacologic RPE visual cycle blockade; ERG dark adaptation measurements The Journal of general physiology Medium 33216847
2020 CRALBP in Müller glia transports 11-cis-retinal from the RPE to intrinsically photosensitive retinal ganglion cells (ipRGCs) to support sustained melanopsin-based photoresponses. Knockout of rlbp1 mainly in Foxg1-expressing Müller cells resulted in less tonic melanopsin-mediated ipRGC responses to prolonged light and less sustained pupillary light reflexes, providing functional evidence for a CRALBP role in the inner retina. Conditional rlbp1 Müller cell knockout mice; multielectrode-array recordings from ipRGCs in RPE-attached retina; pupillary light reflex in vivo Current eye research Medium 32841098
2023 HSP90 regulates CRALBP expression in RPE cells through stabilization of transcription factor SP1, which binds the CRALBP promoter. CRISPR-Cas9 knockout of HSP90α or HSP90β reduces CRALBP mRNA and protein by triggering SP1 degradation via the ubiquitin-proteasome pathway. SP1 inhibition by plicamycin or siRNA downregulates CRALBP expression. In zebrafish, HSP90 inhibition reduces Rlbp1b mRNA and retinal outer nuclear layer thickness. CRISPR-Cas9 HSP90 KO in ARPE-19 cells; SP1 inhibitor and siRNA; promoter binding assay; Western blot; in vivo zebrafish HSP90 inhibitor treatment FASEB journal Medium 36826429
2024 RPE-expressed CRALBP plays a dominant role over Müller glia-expressed CRALBP in supporting both rod and cone visual chromophore regeneration. RPE-specific CRALBP KO mice show 15-fold slower bulk visual chromophore regeneration, delayed rod dark adaptation, and significantly impaired cone pigment regeneration, while MG-specific CRALBP KO mice have normal bulk chromophore regeneration and only mildly affected cone function. Cell-type-specific conditional CRALBP KO mice (RPE-KO and MG-KO); ERG; retinoid HPLC quantification; retinal light damage assay Cell reports High 38676924
2024 A previously unsuspected smaller CRALBP isoform is naturally and differentially expressed in both human and murine retina, produced from an alternative methionine initiation site. This isoform was identified in iPSC-derived RPE models and validated in vivo. iPSC-derived RPE from RLBP1-IRD patients; Rlbp1-/- murine model; AAV2/5 gene supplementation; Western blot/isoform characterization Molecular therapy Medium 39385467
2025 RPE-expressed CRALBP (rlbp1b in zebrafish) is required for dim-light visual function. CRISPR-generated rlbp1b-/- zebrafish showed ~50% reduction in optokinetic response saccade frequency specifically under dim light, with 62% reduction in 11-cis-retinal and 69% reduction in all-trans-retinal levels. The human pathogenic p.R151Q RLBP1 mutation failed to rescue the visual deficit in a complementation assay, whereas wild-type zebrafish Cralbp restored dim-light vision. CRISPR-Cas9 zebrafish knockout; retinoid profiling by HPLC; optokinetic response assay; transgenic complementation assay; unbiased proteomics FASEB journal High 40552921
2026 Chromophore-loaded wild-type human CRALBP and a redox-sensitive A212C:T250C CRALBP mutant pre-loaded with 9-cis-retinal can deliver visual chromophore to rod photoreceptors and restore rod function in RPE65-deficient mice that cannot produce visual chromophore. A single intravitreal injection of chromophore-loaded CRALBP greatly accelerated recovery of rod visual function after photoactivation. In vitro retina treatment with chromophore-loaded CRALBP; intravitreal injection in RPE65-KO mice; ERG measurements; mutagenesis (A212C:T250C) Molecular therapy. Advances Medium 42137266
2003 CRALBP transcriptional regulation differs between RPE/ciliary epithelium and Müller cells. Reporter assays with wild-type and mutant RLBP1 promoter constructs identified an enhancer element within -1826 to -1749 bp and a repressor element within -702 to -635 bp in RPE cells. Promoter-reporter assays with wild-type and mutant RLBP1 promoter constructs in ciliary epithelial, RPE, and Müller cell lines Experimental eye research Medium 12565814
2007 The functional RLBP1 promoter was identified 5' of a previously undescribed noncoding exon 1. 5' RACE analysis revealed this novel exon present in most CRALBP transcripts in ARPE-19 cells, and promoter-reporter constructs showed significantly greater activity from this newly identified minimal promoter sequence compared to previously described RLBP1 promoters. 5' RACE analysis; promoter-reporter assays; semiquantitative exon-specific PCR in human RPE cells; in silico comparative genomics Investigative ophthalmology & visual science Medium 17652763
2009 A 3-kb region of the Rlbp1 gene and 5'-flanking sequences is sufficient to drive robust GFP expression in retinal Müller glia in vivo throughout postnatal development and in degeneration. Expression initiates in retinal progenitor cells at birth, indicating this regulatory region contains the cis-elements controlling Müller glial specificity. Transgenic mouse generation with Rlbp1 promoter-GFP construct; immunohistology in multiple CNS regions, rd1 retina, and developing retina Investigative ophthalmology & visual science Medium 19324864

Source papers

Stage 0 corpus · 52 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2001 Visual cycle impairment in cellular retinaldehyde binding protein (CRALBP) knockout mice results in delayed dark adaptation. Neuron 205 11301032
1999 Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Investigative ophthalmology & visual science 122 10102299
2015 CRALBP supports the mammalian retinal visual cycle and cone vision. The Journal of clinical investigation 109 25607845
1999 Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. Investigative ophthalmology & visual science 104 10102298
2005 Biochemical properties of purified human retinol dehydrogenase 12 (RDH12): catalytic efficiency toward retinoids and C9 aldehydes and effects of cellular retinol-binding protein type I (CRBPI) and cellular retinaldehyde-binding protein (CRALBP) on the oxidation and reduction of retinoids. Biochemistry 98 15865448
2002 Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. American journal of human genetics 73 11868161
2001 Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene. Archives of ophthalmology (Chicago, Ill. : 1960) 61 11176989
2001 Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. Clinical genetics 59 11453974
2004 Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes. Archives of ophthalmology (Chicago, Ill. : 1960) 51 14718298
2009 Rlbp1 promoter drives robust Müller glial GFP expression in transgenic mice. Investigative ophthalmology & visual science 50 19324864
2008 Duplication and divergence of zebrafish CRALBP genes uncovers novel role for RPE- and Muller-CRALBP in cone vision. Investigative ophthalmology & visual science 46 18502992
2007 CRALBP is a highly prevalent autoantigen for human autoimmune uveitis. Clinical & developmental immunology 44 18317528
2020 Effects of deficiency in the RLBP1-encoded visual cycle protein CRALBP on visual dysfunction in humans and mice. The Journal of biological chemistry 37 32188692
2016 Microphthalmia-associated transcription factor regulates the visual cycle genes Rlbp1 and Rdh5 in the retinal pigment epithelium. Scientific reports 33 26876013
2006 Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens. Investigative ophthalmology & visual science 33 17065479
2017 Nonclinical Safety Evaluation of scAAV8-RLBP1 for Treatment of RLBP1 Retinitis Pigmentosa. Molecular therapy. Methods & clinical development 31 29359172
2014 Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene. Acta ophthalmologica 29 25429852
2011 Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families. The British journal of ophthalmology 29 21447491
2001 Electrophysiological findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene. Ophthalmic genetics 29 11449319
2017 A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens. Human genomics 28 28764803
2015 AAV-mediated RLBP1 gene therapy improves the rate of dark adaptation in Rlbp1 knockout mice. Molecular therapy. Methods & clinical development 27 26199951
2004 Identification of CRALBP ligand interactions by photoaffinity labeling, hydrogen/deuterium exchange, and structural modeling. The Journal of biological chemistry 27 15100222
1992 Assignment of the gene (RLBP1) for cellular retinaldehyde-binding protein (CRALBP) to human chromosome 15q26 and mouse chromosome 7. Genomics 27 1733864
2005 Structural insights into the cellular retinaldehyde-binding protein (CRALBP). Proteins 24 16121400
2017 Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1. Investigative ophthalmology & visual science 22 28813576
2005 Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens. American journal of ophthalmology 22 15953459
2008 Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1. Investigative ophthalmology & visual science 19 18344446
2003 CRALBP transcriptional regulation in ciliary epithelial, retinal Müller and retinal pigment epithelial cells. Experimental eye research 19 12565814
2004 A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens. American journal of ophthalmology 18 15234312
2021 Function of mammalian M-cones depends on the level of CRALBP in Müller cells. The Journal of general physiology 17 33216847
2024 Interim safety and efficacy of gene therapy for RLBP1-associated retinal dystrophy: a phase 1/2 trial. Nature communications 15 39256350
2012 Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations. Acta ophthalmologica 13 22551409
2010 Central retinal findings in Bothnia dystrophy caused by RLBP1 sequence variation. Archives of ophthalmology (Chicago, Ill. : 1960) 13 20696998
2007 Identification of the RLBP1 gene promoter. Investigative ophthalmology & visual science 13 17652763
2024 Dominant role for pigment epithelial CRALBP in supplying visual chromophore to photoreceptors. Cell reports 11 38676924
2020 Prolonged Melanopsin-based Photoresponses Depend in Part on RPE65 and Cellular Retinaldehyde-binding Protein (CRALBP). Current eye research 9 32841098
2021 Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene Therapy. Ophthalmology science 8 36247817
2024 RDH5 and RLBP1-Associated Inherited Retinal Diseases: Refining the Spectrum of Stationary and Progressive Phenotypes. American journal of ophthalmology 7 38945349
2023 Retinal Dystrophy Associated With RLBP1 Retinitis Pigmentosa: A Five-Year Prospective Natural History Study. Investigative ophthalmology & visual science 7 37883093
2020 A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens. European journal of ophthalmology 7 32345050
2006 Cloning and characterization of a novel, human cellular retinaldehyde-binding protein CRALBP-like (CRALBPL) gene. Biotechnology letters 7 16802092
2011 Cellular retinaldehyde-binding protein (CRALBP) is a direct downstream target of transcription factor Pax6. Biochimica et biophysica acta 5 21996446
2023 The downregulation of HSP90-controlled CRALBP expression is associated with age-related vision attenuation. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 4 36826429
2025 Germline Disruption of Retinal Pigment Epithelium-Expressed Zebrafish rlbp1b-/- Results in Selective Dim Light Visual Behavior Deficits and Provides a Screening Platform for Evaluating the Pathogenicity of Human RLBP1 Variants. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 3 40552921
2020 A NOVEL LARGE HOMOZYGOUS DELETION IN THE CELLULAR RETINALDEHYDE-BINDING PROTEIN GENE (RLBP1) IN A PATIENT WITH RETINITIS PUNCTATA ALBESCENS. Retinal cases & brief reports 3 28827498
2001 Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families. Ophthalmic genetics 3 11262646
2024 Dual CRALBP isoforms unveiled: iPSC-derived retinal modeling and AAV2/5-RLBP1 gene transfer raise considerations for effective therapy. Molecular therapy : the journal of the American Society of Gene Therapy 2 39385467
2026 [Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 1. Molecular genetic characteristics of inherited retinal pathologies]. Vestnik oftalmologii 1 41847810
2025 A NOVEL RLBP1 GENE MUTATION ASSOCIATED WITH RETINAL FLECKS. Retinal cases & brief reports 1 38470931
2026 [Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 2. Clinical, social and demographic characteristics of inherited retinal pathologies]. Vestnik oftalmologii 0 41847811
2026 Chromophore-loaded CRALBP mutant proteins restore rod function in chromophore-deficient mice. Molecular therapy. Advances 0 42137266
2024 Patient-Reported Outcomes in RLBP1 Retinal Dystrophy: Longitudinal Assessment in a Prospective Natural History Study. Translational vision science & technology 0 39541109

Missed literature

Know a paper Affinage missed for RLBP1? Flag it for the maintainers and the community.

No submissions yet.