RDH10: Retinol Dehydrogenase 10
A key enzyme in retinoic acid biosynthesis and its role in development, metabolism, and disease
Gene Information Card
| Symbol | RDH10 |
|---|---|
| Full Name | Retinol Dehydrogenase 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p22.1 |
| NCBI Gene ID | 157506 ncbi.nlm.nih.gov/gene/157506 |
| Ensembl ID | ENSG00000121039 |
| UniProt ID | Q8IZV5 |
| OMIM ID | 608504 |
| HGNC ID | 19975 |
| Aliases | SDR16C4, RDH10_HUMAN, MGC138207 |
Description
RDH10 encodes retinol dehydrogenase 10, a member of the short-chain dehydrogenase/reductase (SDR) family. This enzyme catalyzes the oxidation of all-trans-retinol to all-trans-retinal, the first and rate-limiting step in the biosynthesis of retinoic acid, a critical signaling molecule for embryonic development, cell differentiation, and metabolism. RDH10 is widely expressed and its dysfunction is linked to developmental anomalies and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microphthalmia, isolated, with coloboma 9 (MCOPCB9) | Loss-of-function mutations impair retinoic acid synthesis, disrupting ocular development | OMIM #615145; PMID 23976951 |
| Coloboma, ocular | Deficient retinoic acid signaling affects optic fissure closure | OMIM #120200; PMID 23976951 |
| Developmental delay with or without structural brain anomalies | Reduced retinoic acid levels alter gene expression in neurodevelopment | PMID 25741868 |
| Retinoic acid deficiency-related disorders | Impaired RDH10 activity leads to systemic vitamin A deficiency phenotypes | OMIM #608504 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Testis | 6.5 | Low |
| Adipose tissue | 5.2 | Low |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| HEK293 | 7.4 | Embryonic kidney cells |
| MCF7 | 4.8 | Breast cancer cells |
| SH-SY5Y | 2.9 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.496C>T (p.Arg166Trp) | Missense | Rare | Loss of enzymatic activity; associated with microphthalmia and coloboma |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein; severe developmental phenotype |
| c.832G>A (p.Gly278Arg) | Missense | Rare | Reduced retinol oxidation; linked to coloboma |
Mutation functional classification
Loss of Function (LOF)
Most reported pathogenic mutations (e.g., p.Arg166Trp, p.Met1Val) result in complete or near-complete loss of retinol dehydrogenase activity, leading to retinoic acid deficiency.
Gain of Function (GOF)
No gain-of-function mutations have been clinically validated for RDH10.
Dominant Negative (DN)
No dominant-negative mechanisms have been described for RDH10 mutations.
View complete mutation data：
Gene Ontology (GO)
| • retinol dehydrogenase activity (GO:0004745) | • oxidation-reduction process (GO:0055114) |
| • retinoid metabolic process (GO:0001523) | • endoplasmic reticulum (GO:0005783) |
| • integral component of membrane (GO:0016021) |
Pathways
• Retinol metabolism (KEGG hsa00830)
• Retinoic acid biosynthesis (Reactome R-HSA-5365859)
• Visual phototransduction (Reactome R-HSA-2187338)
Protein Summary
RDH10 is a 341-amino acid transmembrane protein localized to the endoplasmic reticulum. It belongs to the short-chain dehydrogenase/reductase superfamily and uses NADP+ as a cofactor to oxidize all-trans-retinol to all-trans-retinal. This reaction is essential for retinoic acid production, which regulates gene transcription via retinoic acid receptors (RARs). The protein is highly conserved across vertebrates and is critical for embryonic patterning, organogenesis, and adult tissue homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RDH10 Knockout HEK293 Cell Line | EDJ-KQ52081 | Human | 157506 | Details Get a Quote |
| RDH10 Knockout HeLa Cell Line | EDJ-KQ58760 | Human | 157506 | Details Get a Quote |
| RDH10 Knockout A-549 Cell Line | EDJ-KQ67244 | Human | 157506 | Details Get a Quote |
| RDH10 Knockout HCT 116 Cell Line | EDJ-KQ75641 | Human | 157506 | Details Get a Quote |
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