2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
cilium movementregulation of cilium beat frequencyflagellated sperm motilityciliummusculoskeletal system diseaseBack painhypertensionCOVID-19
Based on limited published evidence, CYB5D1 encodes a radial spoke stalk protein containing a cytochrome b5 domain that binds heme under oxidizing conditions. UniProt annotations indicate it functions in ciliary motility, potentially regulating cilium beat frequency through redox signaling pathways in motile cilia and flagellated sperm. CYB5D1 has been identified as a hypomethylated gene associated with renal aging and kidney function decline 1, and notably demonstrated strong prognostic value as a single-gene survival predictor in breast cancer analysis 2. However, mechanistic details of its biological functions remain largely unexplored.
1
CYB5D1 identified as hypomethylated in participants with higher eGFR decline rate and older age, suggesting association with renal aging and renal function decline
PMID: 388795262
CYB5D1 expression showed the best prognostic performance as a single-gene predictor for breast cancer survival prediction
PMID: 19851466β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
musculoskeletal system diseaseOpen Targets
clonal hematopoiesisOpen Targets
cardiovascular diseaseOpen Targets
essential hypertensionOpen Targets
developmental and epileptic encephalopathy, 9Open Targets
Ascher syndromeOpen Targets
thyroid diseaseOpen Targets
autosomal dominant epilepsy with auditory featuresOpen Targets
X-linked intellectual disability - epilepsyOpen Targets
amelogenesis imperfectaOpen Targets
tooth agenesisOpen Targets
lissencephaly 10Open Targets
developmental and epileptic encephalopathy 104Open Targets
chorea-acanthocytosisOpen Targets
ChoreoacanthocytosisOpen Targets
No pathogenic variants reported on ClinVar for this gene.