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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CYBRD1
cytochrome b reductase 1
Chromosome 2 · 2q31.1
NCBI Gene: 79901Ensembl: ENSG00000071967.13HGNC: HGNC:20797UniProt: Q53TN4
46PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membraneapical plasma membraneextracellular exosomeidentical protein bindingAbnormality of the skeletal systembreast cancerhereditary hemochromatosisbreast carcinoma
✦AI Summary

CYBRD1 encodes duodenal cytochrome b (Dcytb), a plasma membrane ferric reductase essential for dietary iron absorption 1. The protein functions as a transmembrane reductase that uses cytoplasmic ascorbate as an electron donor to reduce extracellular Fe(3+) to Fe(2+), the transportable form of iron required for uptake by duodenal enterocytes 1. Structurally, CYBRD1 contains two heme groups per monomer with four conserved histidine residues serving as heme ligands, and exhibits redox properties with a midpoint potential of +80 mV 1. The protein can be reduced by ascorbate under anaerobic conditions and shows EPR signals consistent with bis-histidine coordination typical of the cytochrome b561 family 1. CYBRD1 expression is dysregulated in hereditary hemochromatosis, where inappropriate regulatory cues contribute to excessive duodenal iron absorption 2. Genetic variants in CYBRD1, particularly rs884409, act as phenotypic modifiers in HFE-related hemochromatosis, influencing serum ferritin levels and transferrin saturation 3. Beyond iron metabolism, CYBRD1 has been implicated in cancer biology, with altered expression associated with colorectal cancer metastasis, mesothelioma risk, and serving as a prognostic biomarker in ovarian cancer 456.

Sources cited
1
CYBRD1 encodes duodenal cytochrome b with ferric reductase activity, contains two heme groups with four conserved histidine ligands, and uses ascorbate to reduce Fe(3+) to Fe(2+)
PMID: 18194661
2
CYBRD1 expression is altered in hereditary hemochromatosis and contributes to excessive duodenal iron absorption
PMID: 12704390
3
CYBRD1 genetic variants, particularly rs884409, modify iron phenotypes in HFE hemochromatosis patients
PMID: 22773607
4
CYBRD1 is involved in colorectal cancer metastasis through the miR-149-3p pathway
PMID: 36593242
5
CYBRD1 is associated with high risk of mesothelioma
PMID: 40223054
6
CYBRD1 serves as a prognostic biomarker in ovarian serous carcinoma
PMID: 26886260
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.50Moderate
breast cancerOpen Targets
0.42Moderate
hereditary hemochromatosisOpen Targets
0.37Weak
breast carcinomaOpen Targets
0.33Weak
peripheral nervous system diseaseOpen Targets
0.33Weak
luminal A breast carcinomaOpen Targets
0.33Weak
thyroid diseaseOpen Targets
0.14Weak
osteoarthritis, kneeOpen Targets
0.11Weak
lung adenocarcinomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
gliomaOpen Targets
0.07Suggestive
hypertriglyceridemia 2Open Targets
0.06Suggestive
familial hypercholesterolemiaOpen Targets
0.05Suggestive
glycine N-methyltransferase deficiencyOpen Targets
0.05Suggestive
congenital disorder of glycosylation type IOpen Targets
0.05Suggestive
Isolated polycystic liver diseaseOpen Targets
0.05Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.05Suggestive
FTH1-related iron overloadOpen Targets
0.04Suggestive
hemochromatosis type 5Open Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACO1Protein interaction95%TFRCProtein interaction95%SLC39A1Protein interaction95%SLC40A1Protein interaction84%STEAP3Protein interaction78%HEPHProtein interaction78%
Tissue Expression6 tissues
Ovary
100%
Heart
95%
Lung
77%
Bone Marrow
23%
Brain
21%
Liver
9%
Gene Interaction Network
Click a node to explore
CYBRD1ACO1TFRCSLC39A1SLC40A1STEAP3HEPH
PROTEIN STRUCTURE
Preparing viewer…
PDB5ZLE · 2.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.94LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.40–0.94]
RankingsWhere CYBRD1 stands among ~20K protein-coding genes
  • #9,316of 20,598
    Most Researched46
  • #8,757of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedCYBRD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrative eQTL and Mendelian randomization analysis reveals key genetic markers in mesothelioma.
PMID: 40223054
Respir Res · 2025
1.00
2
DDX17 induces epithelial-mesenchymal transition and metastasis through the miR-149-3p/CYBRD1 pathway in colorectal cancer.
PMID: 36593242
Cell Death Dis · 2023
0.90
3
Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis.
PMID: 12704390
Nat Genet · 2003
0.80
4
Polymorphisms Related to Iron Homeostasis Associate with Liver Disease in Chronic Hepatitis C.
PMID: 37632052
Viruses · 2023
0.70
5
Neurotrophic factor biomarkers for ischemic stroke diagnosis and mechanistic insights.
PMID: 40195336
Sci Rep · 2025
0.60