RDH12: Retinol Dehydrogenase 12 in Retinal Disease
A comprehensive resource on RDH12 gene function, mutations, and associated retinopathies
Gene Information Card
| Symbol | RDH12 |
|---|---|
| Full Name | Retinol Dehydrogenase 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.1 |
| NCBI Gene ID | 145226 ncbi.nlm.nih.gov/gene/145226 |
| Ensembl ID | ENSG00000139988 |
| UniProt ID | Q96NR8 |
| OMIM ID | 608830 |
| HGNC ID | 19977 |
| Aliases | SDR7C2, RDH, RP53, LCA13, MGC138236 |
Description
RDH12 encodes retinol dehydrogenase 12, a member of the short-chain dehydrogenase/reductase (SDR) family. This enzyme catalyzes the reduction of all-trans-retinal to all-trans-retinol in the visual cycle, a critical step for photoreceptor cell survival. RDH12 is highly expressed in the retinal pigment epithelium and photoreceptors. Loss-of-function mutations in RDH12 cause autosomal recessive Leber congenital amaurosis 13 (LCA13) and retinitis pigmentosa 53 (RP53), characterized by early-onset severe vision loss and retinal degeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leber congenital amaurosis 13 (LCA13) | Loss of RDH12 enzymatic activity impairs reduction of all-trans-retinal, leading to accumulation of toxic retinaldehyde and photoreceptor cell death. | OMIM #612712; ClinVar; PMID: 17325196 |
| Retinitis pigmentosa 53 (RP53) | Biallelic RDH12 mutations disrupt the visual cycle, causing progressive rod-cone degeneration. | OMIM #612712; ClinVar; PMID: 17325196 |
| Cone-rod dystrophy (rare) | Some RDH12 variants lead to predominant cone dysfunction with early macular involvement. | ClinVar; PMID: 23591405 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 45.2 | High |
| Retinal pigment epithelium | 38.7 | High |
| Testis | 2.1 | Low |
| Kidney | 1.5 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (RPE) | 52.3 | High expression; relevant for visual cycle studies |
| HEK293 | 0.4 | Low endogenous expression |
| SH-SY5Y | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.295C>T (p.Arg99Trp) | Missense | Common in European cohorts | Loss of function; reduced catalytic activity |
| c.506G>A (p.Arg169Gln) | Missense | Recurrent in Asian populations | Loss of function; protein instability |
| c.619C>T (p.Arg207Ter) | Nonsense | Rare | Loss of function; premature truncation |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; no translation initiation |
Mutation functional classification
Loss of Function (LOF)
Majority of RDH12 disease-associated variants are loss-of-function, leading to reduced or absent enzymatic activity and accumulation of all-trans-retinal.
Gain of Function (GOF)
No gain-of-function mutations reported for RDH12.
Dominant Negative (DN)
No dominant-negative mechanism described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • retinol dehydrogenase activity (GO:0004745) | • retinoid metabolic process (GO:0001523) |
| • retinol metabolic process (GO:0042572) | • visual perception (GO:0007601) |
| • oxidoreductase activity (GO:0016491) | • oxidation-reduction process (GO:0055114) |
| • endoplasmic reticulum (GO:0005783) |
Pathways
• Retinol metabolism (KEGG: hsa00830)
• Visual cycle (Reactome: R-HSA-2453902)
Protein Summary
RDH12 is a 316-amino acid microsomal retinol dehydrogenase localized to the endoplasmic reticulum. It belongs to the short-chain dehydrogenase/reductase (SDR) family and uses NADPH as a cofactor. The enzyme catalyzes the reduction of all-trans-retinal to all-trans-retinol, a key step in the visual cycle that prevents toxic aldehyde accumulation in photoreceptors. RDH12 is essential for retinal homeostasis; its deficiency leads to early-onset severe retinal dystrophy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RDH12 Knockout HEK293 Cell Line | EDJ-KQ10431 | Human | 145226 | Details Get a Quote |
| RDH12 Knockout HeLa Cell Line | EDJ-KQ58516 | Human | 145226 | Details Get a Quote |
| RDH12 Knockout A-549 Cell Line | EDJ-KQ67005 | Human | 145226 | Details Get a Quote |
| RDH12 Knockout HCT 116 Cell Line | EDJ-KQ75406 | Human | 145226 | Details Get a Quote |
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