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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CYB561D1
cytochrome b561 family member D1
Chromosome 1 Β· 1p13.3
NCBI Gene: 284613Ensembl: ENSG00000174151.16HGNC: HGNC:26804UniProt: Q6ZQS1
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingendoplasmic reticulum membraneoxidoreductase activitytransmembrane transportneurodegenerative diseaseintelligenceAbnormality of the skeletal systemmathematical ability
✦AI Summary

Based on limited published evidence, CYB561D1 is a transmembrane reductase belonging to the cytochrome b561 family. It contains two heme-b redox centers and functions as an integral membrane protein with six transmembrane domains 1. The protein likely uses ascorbate as an electron donor to transfer electrons across membranes, reducing monodehydro-L-ascorbate radicals and Fe(3+) cations in different cellular compartments. CYB561D1 localizes to the endoplasmic reticulum membrane and exhibits oxidoreductase activity. While structural and spectroscopic properties have been characterized, its specific physiological role remains incompletely understood.

Sources cited
1
Describes spectral, redox, and structural properties of CYB561D1; confirms it is a transmembrane protein with two heme-b redox centers and six transmembrane domains with ascorbate reducibility and electron transfer capability
PMID: 36903505
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.31Weak
intelligenceOpen Targets
0.07Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
mathematical abilityOpen Targets
0.03Suggestive
dyslexiaOpen Targets
0.02Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
acute respiratory distress syndromeOpen Targets
0.00Suggestive
COVID-19Open Targets
0.00Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.00Suggestive
meningeal tuberculosisOpen Targets
0.00Suggestive
adenocarcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
squamous cell carcinomaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
diffuse large B-cell lymphomaOpen Targets
0.00Suggestive
ebv-positive nodal t- and nk-cell lymphomaOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
KCTD21Protein interaction73%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
67%
Ovary
62%
Heart
55%
Brain
46%
Liver
39%
Gene Interaction Network
Click a node to explore
CYB561D1KCTD21
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6ZQS1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.19LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.77 [0.51–1.19]
RankingsWhere CYB561D1 stands among ~20K protein-coding genes
  • #16,143of 20,598
    Most Researched13
  • #12,447of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedCYB561D1
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Spectral and Redox Properties of a Recombinant Mouse Cytochrome
PMID: 36903505
Molecules Β· 2023
1.00