DCXR: Dicarbonyl/L-Xylulose Reductase
A key enzyme in the uronate cycle and cellular detoxification of reactive carbonyls
Gene Information Card
| Symbol | DCXR |
|---|---|
| Full Name | Dicarbonyl/L-Xylulose Reductase |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 51181 ncbi.nlm.nih.gov/gene/51181 |
| Ensembl ID | ENSG00000108556 |
| UniProt ID | Q7Z4W1 |
| OMIM ID | 608783 |
| HGNC ID | 24652 |
| Aliases | CR, DCR, HCR, KIDCR, P34H, P34S, SDR20C1, XR |
Description
DCXR encodes dicarbonyl/L-xylulose reductase, a member of the short-chain dehydrogenase/reductase (SDR) family. The enzyme catalyzes the NADPH-dependent reduction of alpha-dicarbonyl compounds (e.g., methylglyoxal, diacetyl) and the reduction of L-xylulose to xylitol in the uronate cycle. It plays a critical role in detoxifying reactive carbonyl species and in carbohydrate metabolism. Polymorphisms in DCXR have been associated with diabetic nephropathy and susceptibility to carbonyl stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetic nephropathy | Reduced enzyme activity due to P34H or P34S variants may impair detoxification of methylglyoxal, leading to increased carbonyl stress and renal damage | PMID: 14679192, ClinVar |
| Carbonyl stress-related disorders | Deficiency in DCXR activity contributes to accumulation of reactive dicarbonyls, promoting protein glycation and oxidative stress | PMID: 15189146 |
| Cancer (general) | Altered DCXR expression affects cellular redox balance and metabolism; potential role in tumor progression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Heart | 6.1 | Low |
| Brain | 4.2 | Low |
| Testis | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HepG2 | 10.1 | Moderate expression |
| A549 | 7.4 | Low expression |
| MCF7 | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>A (p.Pro34His) | missense | 0.5% (East Asian) | Reduced enzymatic activity; associated with diabetic nephropathy |
| c.100C>T (p.Pro34Ser) | missense | 0.2% (European) | Decreased catalytic efficiency; linked to carbonyl stress |
| c.1A>G (p.Met1Val) | missense | <0.1% | Potential loss of start codon; likely loss-of-function |
Mutation functional classification
Loss of Function (LOF)
p.Pro34His and p.Pro34Ser reduce catalytic activity, impairing detoxification of dicarbonyls.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for DCXR.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Uronate cycle (xylulose to xylitol)
• Detoxification of reactive carbonyls (methylglyoxal degradation)
Protein Summary
DCXR is a 34 kDa cytosolic enzyme belonging to the SDR20C subfamily. It functions as a homotetramer and uses NADPH as a cofactor. The protein is highly expressed in kidney and liver, where it reduces L-xylulose to xylitol and detoxifies alpha-dicarbonyl compounds. Structural studies show a Rossmann fold for cofactor binding. Polymorphisms at residue 34 (Pro34His/Ser) reduce activity and are linked to diabetic complications.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCXR Knockout HEK293 Cell Line | EDJ-KQ10964 | Human | 51181 | Details Get a Quote |
| DCXR Knockout A-549 Cell Line | EDJ-KQ38776 | Human | 51181 | Details Get a Quote |
| DCXR Knockout HCT 116 Cell Line | EDJ-KQ38777 | Human | 51181 | Details Get a Quote |
| DCXR Knockout HeLa Cell Line | EDJ-KQ38778 | Human | 51181 | Details Get a Quote |
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