RDH13: Retinol Dehydrogenase 13
Mitochondrial short-chain dehydrogenase/reductase involved in retinoid metabolism and oxidative stress response
Gene Information Card
| Symbol | RDH13 |
|---|---|
| Full Name | Retinol Dehydrogenase 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 112724 ncbi.nlm.nih.gov/gene/112724 |
| Ensembl ID | ENSG00000160447 |
| UniProt ID | Q8N8V2 |
| OMIM ID | 616509 |
| HGNC ID | 19979 |
| Aliases | SDR7C3, RDH13_HUMAN, short chain dehydrogenase/reductase family 7C member 3 |
Description
RDH13 encodes a member of the short-chain dehydrogenase/reductase (SDR) family. The protein localizes to the mitochondrial inner membrane and functions as a retinol dehydrogenase, catalyzing the oxidation of all-trans-retinol to all-trans-retinal. It also exhibits oxidoreductase activity toward other substrates and may play a role in protection against oxidative stress. RDH13 is widely expressed, with highest levels in the retina, liver, and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa (potential) | Impaired retinoid cycling due to reduced RDH13 activity may disrupt visual pigment regeneration. | ClinVar: variant of uncertain significance in RP patients |
| Age-related macular degeneration (suspected) | Altered retinol metabolism in retinal pigment epithelium may contribute to drusen formation. | NCBI Gene: expression changes in AMD tissues |
| Cancer (breast, colorectal) | Dysregulation of retinoid signaling via RDH13 may promote cell proliferation. | COSMIC: somatic mutations in breast and colorectal tumors |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Liver | 8.3 | Medium |
| Kidney | 6.7 | Medium |
| Heart | 4.1 | Low |
| Brain | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 10.2 | Retinal cell model |
| HepG2 (hepatocellular carcinoma) | 7.8 | Liver cancer line |
| MCF7 (breast cancer) | 5.4 | Breast cancer line |
| HEK293 (embryonic kidney) | 4.0 | Common expression model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | 0.001% (gnomAD) | Reduced enzymatic activity in vitro |
| c.487G>A (p.Gly163Arg) | Missense | <0.001% | Loss of mitochondrial localization |
| c.1A>G (p.Met1Val) | Start loss | 0.0005% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Thr125Met) impair retinol dehydrogenase activity, reducing all-trans-retinal production.
Gain of Function (GOF)
Not reported for RDH13.
Dominant Negative (DN)
No evidence; RDH13 functions as a monomer, and heterozygous loss-of-function variants are not known to exert dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • retinol dehydrogenase activity (GO:0004745) | • mitochondrion (GO:0005739) |
| • mitochondrial inner membrane (GO:0005743) | • retinoid metabolic process (GO:0001523) |
| • oxidation-reduction process (GO:0055114) | • lipid metabolic process (GO:0006629) |
Pathways
• Retinol metabolism (Reactome: R-HSA-975634)
• Visual phototransduction (Reactome: R-HSA-2188538)
• Metabolism of vitamins and cofactors (Reactome: R-HSA-196854)
Protein Summary
RDH13 is a 317-amino-acid mitochondrial inner membrane protein belonging to the SDR family. It contains a conserved NADP(H)-binding domain and a catalytic tetrad (Asn-Ser-Tyr-Lys). The enzyme preferentially oxidizes all-trans-retinol to all-trans-retinal using NADP+ as cofactor. It also reduces 9-cis-retinal and other carbonyl compounds. RDH13 is essential for retinoid homeostasis in the retina and may protect mitochondria from oxidative damage by metabolizing lipid peroxidation products.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RDH13 Knockout HEK293 Cell Line | EDJ-KQ7391 | Human | 112724 | Details Get a Quote |
| RDH13 Knockout A-549 Cell Line | EDJ-KQ32541 | Human | 112724 | Details Get a Quote |
| RDH13 Knockout HCT 116 Cell Line | EDJ-KQ32542 | Human | 112724 | Details Get a Quote |
| RDH13 Knockout HeLa Cell Line | EDJ-KQ32543 | Human | 112724 | Details Get a Quote |
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