RDH11
Retinol Dehydrogenase 11 (All-Trans/9-Cis/11-Cis)
Gene Information Card
| Symbol | RDH11 |
|---|---|
| Full Name | Retinol Dehydrogenase 11 (All-Trans/9-Cis/11-Cis) |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.1 |
| NCBI Gene ID | 51109 ncbi.nlm.nih.gov/gene/51109 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q8TC12 |
| OMIM ID | 607849 |
| HGNC ID | 17977 |
| Aliases | MDT1, PSDR1, RALR1, SCALD, SDR7C1 |
Description
RDH11 encodes a member of the short-chain dehydrogenase/reductase (SDR) family. The enzyme catalyzes the reduction of all-trans-retinal to all-trans-retinol in the visual cycle and also acts on 9-cis and 11-cis retinoids. It plays a critical role in vitamin A metabolism and is expressed in the retinal pigment epithelium (RPE) and other tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fundus albipunctatus | Impaired 11-cis-retinol dehydrogenase activity leads to delayed dark adaptation and white dot deposits in the retina. | ClinVar, OMIM |
| Retinitis pigmentosa (recessive) | Loss-of-function mutations in RDH11 disrupt the visual cycle, causing progressive photoreceptor degeneration. | ClinVar, OMIM |
| Cone-rod dystrophy | Deficient retinoid recycling in the RPE leads to cone and rod dysfunction. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Retina | 18.3 | High |
| Kidney | 9.8 | Medium |
| Testis | 7.2 | Low |
| Lung | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (RPE) | 15.0 | High expression; relevant to visual cycle |
| HepG2 (liver) | 10.2 | Moderate expression |
| HEK293 (embryonic kidney) | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.619C>T (p.Arg207Cys) | Missense | Rare | Reduced enzymatic activity; associated with fundus albipunctatus |
| c.806G>A (p.Arg269His) | Missense | Rare | Impaired retinoid binding; linked to retinitis pigmentosa |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein; severe retinal dystrophy |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations (e.g., p.Arg207Cys, p.Arg269His) reduce or abolish retinol dehydrogenase activity, leading to retinoid cycle defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • retinol dehydrogenase activity (GO:0004745) | • retinoid metabolic process (GO:0001523) |
| • visual perception (GO:0007601) | • endoplasmic reticulum (GO:0005783) |
| • oxidoreductase activity (GO:0016491) |
Pathways
• Retinoid metabolism and transport (Reactome: R-HSA-975634)
• Visual phototransduction (Reactome: R-HSA-2188538)
• Vitamin A and carotenoid metabolism (KEGG: hsa00830)
Protein Summary
RDH11 is a 318-amino acid microsomal enzyme belonging to the SDR family. It catalyzes the NADPH-dependent reduction of all-trans-retinal to all-trans-retinol, a key step in the visual cycle. The protein is localized to the endoplasmic reticulum and is highly expressed in the retinal pigment epithelium. Mutations in RDH11 cause autosomal recessive retinopathies, including fundus albipunctatus and retinitis pigmentosa.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RDH11 Knockout HEK293 Cell Line | EDJ-KQ10928 | Human | 51109 | Details Get a Quote |
| RDH11 Knockout HeLa Cell Line | EDJ-KQ37394 | Human | 51109 | Details Get a Quote |
| RDH11 Knockout A-549 Cell Line | EDJ-KQ38698 | Human | 51109 | Details Get a Quote |
| RDH11 Knockout HCT 116 Cell Line | EDJ-KQ38699 | Human | 51109 | Details Get a Quote |
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