1 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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3PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
oxidoreductase activitycytochrome-b5 reductase activity, acting on NAD(P)Hbicarbonate transportendoplasmic reticulum membraneneurodegenerative diseaseovarian dysfunctioncolor vision disorderFuchs endothelial corneal dystrophy
Based on limited published evidence, CYB5RL encodes a cytochrome b5 reductase-like protein with NADH-dependent oxidoreductase activity. UniProt annotations indicate involvement in fatty acid desaturation and elongation, cholesterol biosynthesis, and drug metabolism. The protein localizes to the endoplasmic reticulum membrane. A germline mutation (R51X) in CYB5RL was identified in a canine model of extreme intestinal polyposis, suggesting a role in oxidative stress regulation relevant to tumorigenesis 1.
1
Germline R51X mutation in CYB5RL associated with altered oxidative stress response in intestinal polyposis pathogenesis
PMID: 30018743⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
neurodegenerative diseaseOpen Targets
ovarian dysfunctionOpen Targets
color vision disorderOpen Targets
Fuchs endothelial corneal dystrophyOpen Targets
alcohol drinkingOpen Targets
Fuchs' endothelial dystrophyOpen Targets
cutaneous melanomaOpen Targets
pleural empyemaOpen Targets
Abnormal urine sodium concentrationOpen Targets
Abnormality of the skeletal systemOpen Targets
Tietze syndromeOpen Targets
clear cell renal carcinomaOpen Targets
esophageal cancerOpen Targets
thyroid cancer, nonmedullary, 1Open Targets
urinary bladder cancerOpen Targets
urinary bladder carcinomaOpen Targets
No pathogenic variants reported on ClinVar for this gene.