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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CYB5R1
cytochrome b5 reductase 1
Chromosome 1 · 1q32.1
NCBI Gene: 51706Ensembl: ENSG00000159348.14HGNC: HGNC:13397UniProt: Q9UHQ9
62PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membranemitochondrionextracellular exosomeprotein bindingneurodegenerative diseasehyperpituitarismneoplasmgastric cancer
✦AI Summary

CYB5R1 (cytochrome b5 reductase 1) is an NADH-cytochrome b5 oxidoreductase that plays dual roles in cellular metabolism and pathological processes. The enzyme catalyzes electron transfer from NADH to cytochrome b5, functioning in fatty acid desaturation, cholesterol biosynthesis, and drug metabolism 1. However, CYB5R1 also promotes ferroptosis, a form of iron-dependent cell death, by transferring electrons from NADH to oxygen, generating hydrogen peroxide that leads to lipid peroxidation of polyunsaturated fatty acid-containing membrane phospholipids 1. This ferroptotic activity disrupts membrane integrity and contributes to cell death 2. Clinically, CYB5R1 expression is associated with epithelial-mesenchymal transition and poor prognosis in colorectal cancer 3. The enzyme serves as a diagnostic biomarker for acute myocardial infarction, where ferroptosis-related mechanisms contribute to cardiac damage 4. Additionally, CYB5R1 is upregulated during 25-hydroxycholesterol-induced ferroptosis and is linked to various immune cell infiltration patterns in cancer 56. The protein is also implicated in polycystic ovary syndrome through its role in steroid metabolism and mitochondrial function 7.

Sources cited
1
CYB5R1 transfers electrons from NADH to oxygen generating hydrogen peroxide and promotes ferroptosis through lipid peroxidation
PMID: 33321093
2
CYB5R1 expression is associated with epithelial-mesenchymal transition and poor prognosis in colorectal cancer
PMID: 27120783
3
CYB5R1 serves as a diagnostic biomarker for acute myocardial infarction
PMID: 41068967
4
CYB5R1-mediated oxidative rupture of PUFA phospholipids disrupts membrane integrity during ferroptosis
PMID: 33718888
5
CYB5R1 is upregulated during 25-hydroxycholesterol-induced ferroptosis
PMID: 39778605
6
CYB5R1 is linked to immune cell infiltration patterns in colorectal cancer
PMID: 40594815
7
CYB5R1 is implicated in polycystic ovary syndrome through steroid metabolism and mitochondrial function
PMID: 34130686
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.16Weak
hyperpituitarismOpen Targets
0.13Weak
neoplasmOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.06Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
cancerOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
atherosclerosisOpen Targets
0.01Suggestive
Dravet syndromeOpen Targets
0.01Suggestive
Duane retraction syndromeOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
asthmaOpen Targets
0.00Suggestive
carcinomaOpen Targets
0.00Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
glioblastoma multiformeOpen Targets
0.00Suggestive
inborn error of immunityOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
psoriasisOpen Targets
0.00Suggestive
ulcerative colitisOpen Targets
0.00Suggestive
viral diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CA4Shared pathway100%CYB5R2Shared pathway100%CYB5RLShared pathway100%PORProtein interaction100%SCDProtein interaction100%CYB5BProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
51%
Lung
50%
Ovary
38%
Liver
38%
Bone Marrow
13%
Gene Interaction Network
Click a node to explore
CYB5R1CA4CYB5R2CYB5RLPORSCDCYB5B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9UHQ9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.20LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.89 [0.66–1.20]
RankingsWhere CYB5R1 stands among ~20K protein-coding genes
  • #7,443of 20,598
    Most Researched62
  • #12,653of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedCYB5R1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Membrane Damage during Ferroptosis Is Caused by Oxidation of Phospholipids Catalyzed by the Oxidoreductases POR and CYB5R1.
PMID: 33321093
Mol Cell · 2021
1.00
2
CYB5R1 links epithelial-mesenchymal transition and poor prognosis in colorectal cancer.
PMID: 27120783
Oncotarget · 2016
0.90
3
Identification and validation of feature genes of acute myocardial infarction based on ferroptosis-related genes.
PMID: 41068967
Eur J Med Res · 2025
0.80
4
Downregulation of the SREBP pathways and disruption of redox status by 25-hydroxycholesterol predispose cells to ferroptosis.
PMID: 39778605
Free Radic Biol Med · 2025
0.70
5
Assessing POR and CYB5R1 oxidoreductase-mediated oxidative rupture of PUFA in liposomes.
PMID: 33718888
STAR Protoc · 2021
0.60