Affinage

RDH12

Retinol dehydrogenase 12 · UniProt Q96NR8

Length
316 aa
Mass
35.1 kDa
Annotated
2026-06-10
51 papers in source corpus 15 papers cited in narrative 16 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

RDH12 is an NADPH-dependent short-chain dehydrogenase/reductase localized to photoreceptor inner segments that safeguards retinoid homeostasis and protects photoreceptors against aldehyde toxicity (PMID:15865448, PMID:17032653). As a purified enzyme it shows ~2000-fold preference for NADP(H) over NAD(H) and reduces all-trans-retinal with highest catalytic efficiency, followed by 11-cis- and 9-cis-retinal, and also accepts medium-chain C9 aldehydes derived from lipid peroxidation (PMID:15865448); it acts on free (non-carrier-bound) retinoid substrates, as the retinoid-binding proteins CRBPI and CRALBP restrict its activity toward their bound ligands (PMID:15865448). In rod inner segments RDH12 reduces all-trans-retinal that leaks intracellularly from the outer segments, functioning in compartmental complement to outer-segment RDH8 — loss of both produces a deficit greater than either single knockout — and it detoxifies medium-chain aldehydes such as nonanal (PMID:22621924, PMID:18396173). In cones, RDH12 acts as an 11-cis-retinol oxidase, converting Müller cell-derived 11-cis-retinol to 11-cis-retinaldehyde so cones regenerate pigment independently of the rod-dominated visual cycle (PMID:38981477). Beyond retinoids, human RDH12 reduces dihydrotestosterone to androstanediol, an activity absent in the murine enzyme (PMID:17512723). RDH12 mutations cause inherited retinal degeneration through two mechanisms: catalytic inactivation and accelerated ubiquitin-proteasome degradation of catalytically competent mutants, with the resulting loss of function increasing susceptibility to retinal-aldehyde-induced oxidative and ER stress and photoreceptor death (PMID:15258582, PMID:20006610, PMID:34445569). AAV-delivered RDH12 restores inner-segment expression, reductase activity, and light-damage resistance in Rdh12-null mice, and Rdh12 mRNA translation in rods is facilitated by WTAP-mediated m6A modification (PMID:31237438, PMID:41796262).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 2004 High

    Established that RDH12 is a photoreceptor retinol dehydrogenase whose disease-associated variants lose catalytic function, defining the disease mechanism as enzymatic loss of function.

    Evidence Heterologous expression of wild-type and Y226C/T49M variants in COS-7 cells with retinoid interconversion assay

    PMID:15258582

    Open questions at the time
    • Did not define substrate preference or cofactor specificity
    • No structural or in vivo data
  2. 2005 High

    Defined RDH12 as an NADPH-preferring reductase with quantitative substrate hierarchy and demonstrated it acts on free retinoids, answering what reactions it catalyzes and how carrier proteins gate its access.

    Evidence Kinetic characterization of purified recombinant human RDH12; competition assays with CRBPI and CRALBP

    PMID:15865448

    Open questions at the time
    • In vitro substrate preference does not establish the physiological substrate in vivo
    • Did not address subcellular compartment
  3. 2005 High

    Showed that a large fraction of disease alleles reduce protein stability rather than only intrinsic catalysis, broadening the molecular basis of RDH12 disease.

    Evidence Transient transfection of 20 missense variants in COS-7 cells with activity and protein-level measurement

    PMID:16269441

    Open questions at the time
    • Mechanism of destabilization/degradation not identified
    • Stability measured in heterologous cells, not photoreceptors
  4. 2006 High

    Localized RDH12 to inner segments and used a knockout to show it shapes all-trans-retinal reduction kinetics, dark adaptation, and light-damage susceptibility — placing it in photoreceptor retinoid metabolism in vivo.

    Evidence Immunohistochemistry plus Rdh12-knockout mouse with retinoid quantification, ERG, and light-damage assays

    PMID:17032653

    Open questions at the time
    • Knockout retina was largely histologically intact, leaving the degenerative mechanism unexplained
    • Mouse phenotype milder than human disease
  5. 2006 High

    Demonstrated RDH12 is not rate-limiting in the normal mouse visual cycle, clarifying that its essential role lies in stress/protection rather than bulk chromophore recycling.

    Evidence Rdh12-knockout mouse with histology, ERG, HPLC retinoid quantification under matched Rpe65 background

    PMID:17130236

    Open questions at the time
    • Null finding under normal light leaves the protective role to be defined
    • Species difference from human disease severity unresolved
  6. 2007 Medium

    Extended RDH12 substrate range to steroid metabolism in the human enzyme, distinguishing it functionally from the murine ortholog.

    Evidence In vitro dihydrotestosterone conversion assay with recombinant human and murine RDH12

    PMID:17512723

    Open questions at the time
    • Single lab, limited follow-up
    • Physiological relevance of steroid reduction in photoreceptors not established
  7. 2008 Medium

    Defined the aldehyde-detoxification role, showing RDH12 metabolizes nonanal but not 4-HNE, connecting its activity to protection from lipid-peroxidation products.

    Evidence Cell survival and enzymatic activity assays in the presence of medium-chain aldehydes; retinoid metabolism analysis

    PMID:18396173

    Open questions at the time
    • Aldehyde selectivity mechanism not structurally explained
    • In vivo contribution of aldehyde detoxification not quantified
  8. 2009 Medium

    Identified the ubiquitin-proteasome system as the route of accelerated degradation for catalytically active disease mutants, explaining loss of function for variants that retain enzymatic activity.

    Evidence Proteasome inhibition, ubiquitylation immunoprecipitation, and half-life measurement for T49M and I51N

    PMID:20006610

    Open questions at the time
    • E3 ligase and recognition determinants not identified
    • Tested in heterologous cells, two mutants only
  9. 2012 High

    Resolved the division of labor between RDH8 and RDH12, showing inner-segment RDH12 reduces all-trans-retinal leaking from outer segments and that both enzymes are jointly required for moderate retinal loads.

    Evidence Single-cell fluorescence imaging of all-trans-retinol production in rods from wild-type, Rdh8, Rdh12, and double-knockout mice

    PMID:22621924

    Open questions at the time
    • Compartmental flux of retinal between segments not directly measured
    • Does not address cone-specific function
  10. 2019 High

    Demonstrated that AAV gene replacement restores RDH12 expression, activity, and light-damage resistance, providing proof-of-concept for therapeutic rescue.

    Evidence Subretinal rAAV2/5-RDH12 in Rdh12-null mice with reductase activity, light-damage, and localization readouts

    PMID:31237438

    Open questions at the time
    • Durability and efficacy in degenerative human-like phenotype not addressed
    • Single lab, single vector design
  11. 2021 Medium

    Linked RDH12 loss to atRAL-driven oxidative and ER stress and to early rod-predominant degeneration, connecting enzymatic failure to cell-death pathways.

    Evidence HEK-293 WT/mutant cell lines with viability and ER-stress markers; CRISPR-Cas9 zebrafish rdh12 mutant with TEM, immunofluorescence, and gene expression

    PMID:34445569

    Open questions at the time
    • ER-stress markers correlative, not causal for photoreceptor death
    • Single lab; cell line not photoreceptor-native
  12. 2024 High

    Revealed a cone-specific role as an 11-cis-retinol oxidase enabling cones to regenerate pigment via the Müller cell photic visual cycle, expanding RDH12 function beyond retinal reduction.

    Evidence Zebrafish Zcrdh mutant retinoid HPLC, cone microspectrophotometry, immunocytochemistry, and in vitro 11-cis-retinol oxidase assay with recombinant mammalian RDH12

    PMID:38981477

    Open questions at the time
    • Relative contribution of oxidase vs reductase activity in mammalian cones in vivo not quantified
    • How directionality between reductase and oxidase modes is controlled is unresolved
  13. 2025 Medium

    Modeled dominant RDH12-retinitis pigmentosa in human organoids, implicating cone-predominant pathology with disrupted retinol biosynthesis despite correct protein localization.

    Evidence iPSC-derived retinal organoids carrying c.759del frameshift allele with TEM, cone function, and retinol pathway analysis

    PMID:40365019

    Open questions at the time
    • Single patient line, single lab
    • Dominant-negative vs haploinsufficiency mechanism not distinguished
  14. 2026 Medium

    Identified post-transcriptional control of Rdh12 by WTAP-mediated m6A methylation, showing translation of Rdh12 mRNA in rods depends on this epigenetic mark.

    Evidence Conditional Wtap-knockout mouse with m6A profiling, translation assays, and AAV rescue

    PMID:41796262

    Open questions at the time
    • RDH12 is one of three targets; gene-specific contribution to phenotype not isolated
    • Reader/effector linking m6A to translation not defined

Open questions

Synthesis pass · forward-looking unresolved questions
  • How RDH12's bidirectional retinoid activity (reductase in rods vs 11-cis-retinol oxidase in cones) is directionally controlled in vivo, and how its loss progresses to human photoreceptor degeneration despite mild mouse phenotypes, remain unresolved.
  • No structural model explaining substrate/direction selectivity
  • Species discrepancy between mouse and human disease severity unexplained
  • Degradation E3 ligase and m6A reader effectors unidentified

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016491 oxidoreductase activity 4 GO:0016209 antioxidant activity 2
Localization
GO:0005829 cytosol 2
Pathway
R-HSA-9709957 Sensory Perception 3 R-HSA-1430728 Metabolism 2

Evidence

Reading pass · 16 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2004 RDH12 encodes a retinol dehydrogenase expressed in photoreceptor cells; disease-associated variants Y226C and T49M expressed in COS-7 cells showed diminished and aberrant activity, respectively, in interconverting isomers of retinol and retinal, establishing loss of catalytic function as the disease mechanism. Heterologous expression in COS-7 cells with enzymatic activity assay; site-directed mutagenesis of disease variants Nature genetics High 15258582
2005 Purified human RDH12 is an NADPH-dependent short-chain dehydrogenase/reductase with ~2000-fold preference for NADP(H) over NAD(H); highest catalytic efficiency for all-trans-retinal (kcat/Km ~900 min⁻¹ μM⁻¹), followed by 11-cis-retinal and 9-cis-retinal, and also accepts medium-chain C9 aldehydes (lipid peroxidation products) as substrates. In vitro enzymatic assay with purified recombinant human RDH12; kinetic parameter determination (Km, kcat) Biochemistry High 15865448
2005 CRBP type I (which binds all-trans-retinol with higher affinity than all-trans-retinaldehyde) restricts RDH12-mediated oxidation of all-trans-retinol but has little effect on reduction of all-trans-retinaldehyde; CRALBP inhibits RDH12-mediated reduction of 11-cis-retinal more strongly than oxidation of 11-cis-retinol, consistent with RDH12 utilizing unbound (free) retinoid substrates. In vitro enzymatic activity assay with purified RDH12 in the presence of CRBPI or CRALBP Biochemistry High 15865448
2005 Eleven of 20 disease-associated RDH12 missense variants showed profound loss of catalytic activity when expressed in COS-7 cells assayed for all-trans-retinal to all-trans-retinol conversion; loss of function appeared to result from decreased protein stability as expression levels were significantly reduced. Transient transfection in COS-7 cells with retinoid conversion enzymatic assay and protein expression measurement Human molecular genetics High 16269441
2006 RDH12 localizes to the photoreceptor inner segments (not outer segments); deletion of Rdh12 in mice slows the kinetics of all-trans-retinal reduction and delays dark adaptation, and Rdh12−/− mice show accelerated 11-cis-retinal production and increased susceptibility to light-induced photoreceptor apoptosis. Immunohistochemistry for subcellular localization; Rdh12 knockout mouse model with retinoid quantification, ERG dark-adaptation kinetics, and light-damage susceptibility assay The Journal of biological chemistry High 17032653
2006 Rdh12 knockout mice show grossly normal retinal histology at 10 months with ERG responses, retinoid levels, and bleaching recovery similar to wild type under matched Rpe65 polymorphism background, indicating RDH12 activity is not rate-limiting in the mouse visual cycle under normal light conditions. Rdh12 knockout mouse model; retinal histology, scotopic/photopic ERG, retinoid quantification by HPLC, oxidative stress markers Molecular and cellular biology High 17130236
2007 RDH12 mutant proteins associated with LCA (C201R, T49M/A269fsX270) were inactive or displayed only residual enzymatic activity when expressed in COS-7 and Sf9 cells, while polymorphic variants (R161Q, G46G, A177V) were fully active, correlating biochemical inactivity with retinal disease. Heterologous expression in COS-7 and Sf9 cells with enzymatic activity assay; structural modeling Vision research Medium 17512964
2007 Human RDH12 reduces dihydrotestosterone to androstanediol in addition to its retinoid substrates, establishing a role in steroid metabolism; murine Rdh12 did not show this steroid-converting activity. In vitro steroid conversion assay with recombinant human RDH12 and murine Rdh12 The Journal of steroid biochemistry and molecular biology Medium 17512723
2008 RDH12 protects cells against nonanal (a medium-chain aldehyde from lipid peroxidation) but not against 4-hydroxynonenal (4-HNE); high concentrations of nonanal inhibit RDH12 retinaldehyde reductase activity, suggesting nonanal is metabolized by RDH12; 4-HNE does not inhibit RDH12 activity but inhibits LRAT and ALDH, disrupting retinoid homeostasis. Cell survival assay; enzymatic activity assay with RDH12 in presence of aldehydes; retinoid metabolism analysis Biochimica et biophysica acta Medium 18396173
2009 Catalytically active disease-associated RDH12 mutants T49M and I51N undergo accelerated degradation via the ubiquitin-proteasome system; proteasome inhibition leads to significant accumulation of ubiquitylated T49M and I51N, and degree of ubiquitylation correlates with protein half-lives. Proteasome inhibition assay; ubiquitylation detection by immunoprecipitation; protein half-life measurement FEBS letters Medium 20006610
2012 RDH8 (in outer segments) provides the primary activity for reducing all-trans-retinal generated by light response; RDH12 (in inner segments) protects vital cell organelles against aldehyde toxicity from intracellular leak of all-trans-retinal from outer to inner segments; both RDH8 and RDH12 are required for reducing moderate retinal loads within the cell interior, as cells lacking both showed greater deficit than either single knockout. Fluorescence imaging of all-trans-retinol production in single isolated rod cells from wild-type and Rdh8, Rdh12, and double-knockout mice The Journal of biological chemistry High 22621924
2019 AAV2/5-delivered human RDH12 cDNA driven by a human rhodopsin-kinase promoter in Rdh12−/− mice produced stable, correctly localized transgene expression in inner segments, reconstituted retinal reductase activity, and decreased susceptibility to light damage, establishing functional rescue by gene replacement. Subretinal injection of rAAV2/5-RDH12 in Rdh12−/− mice; retinal reductase activity assay; light-damage susceptibility assay; immunohistochemistry for localization Human gene therapy High 31237438
2021 Wild-type RDH12 expressed in HEK-293 cells protects against all-trans-retinal (atRAL)-induced toxicity and oxidative stress; mutant RDH12 cells show reduced protein expression and activity, failing to protect from atRAL toxicity and inducing oxidative and ER stress with upregulation of sXBP1, CHOP, and ATF4. In a CRISPR-Cas9 zebrafish rdh12 mutant, disrupted phagosome phagocytosis, rhodopsin mislocalisation, and reduced sod2/atg12 expression indicate early rod-predominant degeneration. HEK-293 cell lines expressing WT/mutant RDH12 with cell viability and ER stress marker assays; CRISPR-Cas9 zebrafish rdh12 knockout with TEM, immunofluorescence, and gene expression analysis International journal of molecular sciences Medium 34445569
2024 RDH12 (mammalian ortholog of zebrafish ZCRDH) functions as an 11-cis-retinol oxidase in cone photoreceptor inner segments, converting 11-cis-retinol (supplied by Müller cells via the photic visual cycle) to 11-cis-retinaldehyde, thereby allowing cones to regenerate visual pigments independently of the rod-dominated canonical visual cycle and escape competition with rods for chromophore during daylight. Zebrafish Zcrdh mutant screen with retinoid analysis by HPLC; microspectrophotometry of isolated Zcrdh-mutant cones; immunocytochemistry; in vitro 11-cis-retinol oxidase catalytic activity assay with recombinant mammalian RDH12 Current biology : CB High 38981477
2025 Dominant RDH12 retinal organoids (iPSC-derived, carrying c.759del p.Phe254Leufs*24) show correct RDH12 localization to photoreceptor inner segments up to week 44, but photoreceptors are less abundant and shorter by week 37 on TEM; cone function, retinol biosynthesis, and the vitamin A pathway are highly disrupted by week 44, implicating cone-predominant pathology in dominant RDH12-retinitis pigmentosa. iPSC-derived retinal organoids from RDH12-AD patient; transmission electron microscopy; cone function assay; retinol biosynthesis pathway analysis Frontiers in cell and developmental biology Medium 40365019
2026 WTAP-mediated m6A methylation in the 3'UTR of Rdh12 mRNA facilitates its translation in rod photoreceptors; conditional Wtap knockout in mice reduces m6A modification of Rdh12 (and Pde6b, Reep6) mRNAs, causing their epigenetic silencing and diminished protein expression, resulting in progressive rod degeneration. Conditional Wtap knockout mouse with m6A profiling, polysome/translation assays, AAV rescue experiment; crosses with CAG-Wtap mice Science China. Life sciences Medium 41796262

Source papers

Stage 0 corpus · 51 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2004 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nature genetics 199 15258582
2004 Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. American journal of human genetics 154 15322982
2006 Retinol dehydrogenase (RDH12) protects photoreceptors from light-induced degeneration in mice. The Journal of biological chemistry 101 17032653
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
2005 Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Human molecular genetics 86 16269441
2012 Reduction of all-trans-retinal in vertebrate rod photoreceptors requires the combined action of RDH8 and RDH12. The Journal of biological chemistry 81 22621924
2007 RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression. Investigative ophthalmology & visual science 61 17197551
2006 Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function. Molecular and cellular biology 57 17130236
2011 RDH12 retinopathy: novel mutations and phenotypic description. Molecular vision 54 22065924
2018 RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function. Investigative ophthalmology & visual science 53 30372751
2008 Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa. Archives of ophthalmology (Chicago, Ill. : 1960) 51 18779497
2007 The phenotype of early-onset retinal degeneration in persons with RDH12 mutations. Investigative ophthalmology & visual science 45 17389517
2007 Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations. Vision research 41 17512964
2019 Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration. The British journal of ophthalmology 36 30979730
2020 Expanding the phenotypic spectrum in RDH12-associated retinal disease. Cold Spring Harbor molecular case studies 27 32014858
2008 Effect of lipid peroxidation products on the activity of human retinol dehydrogenase 12 (RDH12) and retinoid metabolism. Biochimica et biophysica acta 27 18396173
2019 Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives. Experimental eye research 26 31505163
2008 Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations. Investigative ophthalmology & visual science 25 19011012
2019 PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. Retina (Philadelphia, Pa.) 22 30134391
2014 Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation. Documenta ophthalmologica. Advances in ophthalmology 22 24752437
2021 Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12-Related Retinopathies. International journal of molecular sciences 19 34445569
2019 Development of a Gene Therapy Vector for RDH12-Associated Retinal Dystrophy. Human gene therapy 19 31237438
2022 RDH12 retinopathy: clinical features, biology, genetics and future directions. Ophthalmic genetics 18 35491887
2007 RDH12, a retinol dehydrogenase causing Leber's congenital amaurosis, is also involved in steroid metabolism. The Journal of steroid biochemistry and molecular biology 18 17512723
2020 Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa. Frontiers in genetics 16 32322264
2021 Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa. The British journal of ophthalmology 14 34031043
2013 Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa. Gene 14 23900199
2020 Macula-predominant retinopathy associated with biallelic variants in RDH12. Ophthalmic genetics 13 32790509
2024 RDH12 allows cone photoreceptors to regenerate opsin visual pigments from a chromophore precursor to escape competition with rods. Current biology : CB 11 38981477
2015 Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa. Journal of ophthalmology 11 26124963
2009 Disease-associated variants of microsomal retinol dehydrogenase 12 (RDH12) are degraded at mutant-specific rates. FEBS letters 10 20006610
2019 Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration. Advances in experimental medicine and biology 9 31884613
2014 Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes. DNA and cell biology 9 25148430
2010 Novel RDH12 sequence variations in Leber congenital amaurosis. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 8 20736127
2021 Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants. Stem cell research 7 34216980
2017 Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis. Journal of Zhejiang University. Science. B 7 28471114
2021 Gene Therapy for Rdh12-Associated Retinal Diseases Helps to Delay Retinal Degeneration and Vision Loss. Drug design, development and therapy 6 34429587
2020 Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in the RDH12 Gene. Translational vision science & technology 5 32855876
2022 Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations. Brain topography 4 35006499
2022 Generation of a human induced pluripotent stem cell line (PUMCHi018-A) from an early-onset severe retinal dystrophy patient with RDH12 mutations. Stem cell research 3 35016144
2025 Dominant RDH12-retinitis pigmentosa impairs photoreceptor development and implicates cone involvement in retinal organoids. Frontiers in cell and developmental biology 2 40365019
2021 Simultaneous Identification of Both MFSD8 and RDH12 Pathogenic Variants in a Chinese Family Affected With Retinitis Pigmentosa. Frontiers in genetics 2 34567070
2025 Generation of two iPSC lines (UGENTi003 and UGENTi004) from patients with intermediate rod-cone dystrophy carrying the c.[-123C>T;701G>A];[806_810del] variants in the RDH12 gene. Stem cell research 1 40446715
2024 Generation of two hiPSC lines carrying compound heterozygous RDH12 mutations in a LCA patient. Stem cell research 1 39142122
2023 Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations. Journal of medical genetics 1 36690427
2022 New associations of serum β-carotene, lycopene, and zeaxanthin concentrations with NR1H3, APOB, RDH12, AND CYP genes. Food science & nutrition 1 35282004
2026 Functional In Vitro Assessment of rAAV-Delivered Retinol Dehydrogenase 12 (RDH12) Activity. International journal of molecular sciences 0 41683787
2026 WTAP mediated m6A methylation modulates retinal photoreceptor function via facilitating of REEP6, PDE6B and RDH12 translation. Science China. Life sciences 0 41796262
2025 Genotype-phenotype relationship in RDH12 retinopathy: a perspective from a pediatric age group. Ophthalmic genetics 0 40043730
2024 RDH12-associated retinal degeneration caused by a homozygous pathogenic variant of 146C>T and literature review. International journal of ophthalmology 0 38371258
2024 Retinol dehydrogenase 12 (RDH12) knock out may cause hyperuricemia phenotype in mice. Biochemical and biophysical research communications 0 38552555

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