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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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RDH11
retinol dehydrogenase 11
Chromosome 14 Β· 14q24.1
NCBI Gene: 51109Ensembl: ENSG00000072042.14HGNC: HGNC:17964UniProt: A0A0S2Z583
86PubMed Papers
21Diseases
0Drugs
9Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
retinal metabolic processprotein bindingall-trans-retinol dehydrogenase (NADP+) activityretinoid metabolic processGenetic malformation syndrome with short statureneurodegenerative diseaseRetinal dystrophyacute tonsillitis
✦AI Summary

RDH11 is a retinol dehydrogenase that catalyzes NADP-dependent oxidation of retinoids, displaying high activity toward 9-cis, 11-cis, and all-trans-retinol 1. It functions as a dual-substrate enzyme with C15 pro-R specificity, uniquely metabolizing both cis- and trans-retinols 1. In the retinal pigment epithelium, RDH11 plays an auxiliary role in visual pigment regeneration by complementing RDH5 in converting 11-cis-retinol to 11-cis-retinal; mice lacking RDH11 exhibit delayed dark adaptation following intense light exposure 2. RDH11 can also reduce lipid peroxidation products in vitro, though RDH12 appears more physiologically relevant for 4-hydroxynonenal detoxification in photoreceptors 3. Beyond retinoid metabolism, RDH11 regulates hepatic cholesterol homeostasis by dampening cellular stress associated with cholesterol synthesis; it is downregulated during high-cholesterol diet and upregulated by statins in a SREBP2-dependent manner 4. RDH11 mutations cause syndromic retinal dystrophy with juvenile cataracts, intellectual disability, and myopathy, with disease-associated protein mislocalization observed in muscle tissue 5. Additionally, RDH11 can be hijacked as a bioactivation enzyme for alkynylcarbinol prodrugs, generating protein-reactive electrophiles useful for therapeutic applications 6.

Sources cited
1
RDH11 displays dual-substrate specificity for all-trans- and cis-retinols with C15 pro-R specificity
PMID: 12226107
2
RDH11 has a measurable role in visual pigment regeneration by complementing RDH5 as an 11-cis-RDH, and rdh11-/- mice show delayed dark adaptation following high light bleaching
PMID: 15634683
3
RDH11 can reduce 4-hydroxynonenal in vitro, though RDH12 is more physiologically relevant for this function in photoreceptors
PMID: 19686838
4
RDH11 is regulated by cholesterol status in a SREBP2-dependent manner and plays a role in protecting cells against cellular stress from cholesterol synthesis
PMID: 39362601
5
RDH11 mutations cause syndromic retinitis pigmentosa with juvenile cataracts, intellectual disability, and myopathy
PMID: 34988992
6
RDH11 can bioactivate lipidic alkynylcarbinols into protein-reactive electrophiles for potential therapeutic use
PMID: 35535493
Disease Associationsβ“˜21
Genetic malformation syndrome with short statureOpen Targets
0.60Moderate
neurodegenerative diseaseOpen Targets
0.36Weak
Retinal dystrophyOpen Targets
0.33Weak
acute tonsillitisOpen Targets
0.31Weak
cervical carcinomaOpen Targets
0.27Weak
optic atrophyOpen Targets
0.11Weak
degeneration of macula and posterior poleOpen Targets
0.07Suggestive
autoimmune thyroid diseaseOpen Targets
0.03Suggestive
protozoa infectious diseaseOpen Targets
0.02Suggestive
Abruptio PlacentaeOpen Targets
0.02Suggestive
secondary malignant neoplasmOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
BlindnessOpen Targets
0.02Suggestive
retinitis pigmentosa 1Open Targets
0.02Suggestive
posterior cortical atrophyOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
non-alcoholic steatohepatitisOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.01Suggestive
retinitis pigmentosaOpen Targets
0.01Suggestive
Retinal dystrophy, juvenile cataracts, and short stature syndromeUniProt
Pathogenic Variants9
NM_016026.4(RDH11):c.322C>T (p.Arg108Ter)Pathogenic
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 108
NM_016026.4(RDH11):c.199C>T (p.Arg67Ter)Pathogenic
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 67
NM_016026.4(RDH11):c.349+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_016026.4(RDH11):c.544del (p.Leu182fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 182
NM_016026.4(RDH11):c.230del (p.Lys77fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 77
NM_016026.4(RDH11):c.749G>A (p.Trp250Ter)Likely pathogenic
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 250
NM_016026.4(RDH11):c.237dup (p.Leu80fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 80
NM_016026.4(RDH11):c.484G>T (p.Glu162Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 162
NM_016026.4(RDH11):c.284T>A (p.Leu95Ter)Pathogenic
Retinal dystrophy
β˜†β˜†β˜†β˜†2021β†’ Residue 95
View on ClinVar β†—
Related Genes
ALDH1A3Protein interaction95%CYP26A1Protein interaction95%RBP1Protein interaction95%RBP2Protein interaction95%PNPLA4Protein interaction95%DGAT1Protein interaction95%
Tissue Expression6 tissues
Liver
100%
Brain
90%
Lung
34%
Ovary
32%
Bone Marrow
27%
Heart
24%
Gene Interaction Network
Click a node to explore
RDH11ALDH1A3CYP26A1RBP1RBP2PNPLA4DGAT1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8TC12
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.90LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.59 [0.39–0.90]
RankingsWhere RDH11 stands among ~20K protein-coding genes
  • #5,566of 20,598
    Most Researched86
  • #2,949of 5,498
    Most Pathogenic Variants9
  • #8,175of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedRDH11
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Japanese eel retinol dehydrogenases 11/12-like are 17-ketosteroid reductases involved in sex steroid synthesis.
PMID: 33271196
Gen Comp Endocrinol Β· 2021
1.00
2
Retinol dehydrogenases RDH11 and RDH12 in the mouse retina: expression levels during development and regulation by oxidative stress.
PMID: 18326732
Invest Ophthalmol Vis Sci Β· 2008
0.90
3
Hepatic retinol dehydrogenase 11 dampens stress associated with the maintenance of cellular cholesterol levels.
PMID: 39362601
Mol Metab Β· 2024
0.80
4
SDR enzymes oxidize specific lipidic alkynylcarbinols into cytotoxic protein-reactive species.
PMID: 35535493
Elife Β· 2022
0.70
5
Delayed dark adaptation in 11-cis-retinol dehydrogenase-deficient mice: a role of RDH11 in visual processes in vivo.
PMID: 15634683
J Biol Chem Β· 2005
0.60