HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CYP27C1
cytochrome P450 family 27 subfamily C member 1
Chromosome 2 · 2q14.3
NCBI Gene: 339761Ensembl: ENSG00000186684.14HGNC: HGNC:33480UniProt: A0A7N4I3A3
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
retinoic acid bindingall-trans retinoic acid 3,4-desaturase activity11-cis-retinal 3,4-desaturase activityall-trans-retinol bindingPhlebitisThrombophlebitisVitiligonephrotic syndrome
✦AI Summary

CYP27C1 is a mitochondrial cytochrome P450 monooxygenase that catalyzes the 3,4-desaturation of all-trans-retinol (vitamin A1) to all-trans-3,4-didehydroretinol (vitamin A2), with lower efficiency toward retinal and retinoic acid substrates 1. This enzymatic conversion is critical for spectral tuning of visual pigments; knockout of cyp27c1 in zebrafish eliminates vitamin A2 production and abolishes the organism's ability to red-shift photoreceptor sensitivity and perceive near-infrared light 1. The enzyme functions via a two-protein mitochondrial electron transfer system involving FDXR and FDX1/FDX2. Beyond vision, CYP27C1 expression levels influence lung cancer tumorigenicity and drug sensitivity; CYP27C1 knockdown enhances cell proliferation, migration, and tolerance to anticancer agents through dysregulation of the IGF-1R/Akt/p53 signaling pathway 2. Genome-wide association studies identified CYP27C1 variants associated with plasma protein C levels and ischaemic heart disease risk in African American populations 34. CYP27C1 expression has been associated with avascular necrosis of the femoral head, particularly in idiopathic cases 5. These findings suggest CYP27C1 has pleiotropic functions spanning vision, cancer biology, and cardiovascular physiology.

Sources cited
1
CYP27C1 converts vitamin A1 to A2, mediating red-shift of visual photoreceptor sensitivity and enabling near-infrared vision in zebrafish
PMID: 26549260
2
CYP27C1 levels regulate lung cancer tumorigenicity and drug sensitivity via IGF-1R/Akt/p53 pathway modulation
PMID: 35887201
3
CYP27C1 SNP rs4321325 is associated with plasma protein C levels in African Americans
PMID: 25376901
4
CYP27C1 variant rs4321325 is included in genetic instruments predicting protein C and ischaemic heart disease risk
PMID: 27882376
5
CYP27C1 shows elevated frequency in idiopathic avascular necrosis of the femoral head cases
PMID: 21210629
6
CYP27C1 expression red-shifts spectral sensitivity of optogenetic tools through vitamin A1-to-A2 conversion and exhibits mitochondrial localization
PMID: 37987804
Disease Associationsⓘ20
PhlebitisOpen Targets
0.13Weak
ThrombophlebitisOpen Targets
0.13Weak
VitiligoOpen Targets
0.12Weak
nephrotic syndromeOpen Targets
0.08Suggestive
lung cancerOpen Targets
0.07Suggestive
Hodgkins lymphomaOpen Targets
0.05Suggestive
dementiaOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
hypopituitarismOpen Targets
0.03Suggestive
knee fractureOpen Targets
0.02Suggestive
joint diseaseOpen Targets
0.02Suggestive
squamous cell carcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
melanomaOpen Targets
0.01Suggestive
Parkinson diseaseOpen Targets
0.00Suggestive
papillary thyroid carcinomaOpen Targets
0.00Suggestive
rheumatoid arthritisOpen Targets
0.00Suggestive
adenosquamous lung carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ADH4Protein interaction93%ADH5Protein interaction93%HSD17B6Protein interaction93%DHRS3Protein interaction93%DHRS9Protein interaction93%RDH8Protein interaction93%
Tissue Expression6 tissues
Heart
100%
Ovary
61%
Liver
55%
Brain
39%
Lung
18%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
CYP27C1ADH4ADH5HSD17B6DHRS3DHRS9RDH8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q4G0S4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.53–0.95]
RankingsWhere CYP27C1 stands among ~20K protein-coding genes
  • #14,968of 20,598
    Most Researched17
  • #8,897of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedCYP27C1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Enzymatic vitamin A
PMID: 37987804
Pflugers Arch · 2023
1.00
2
Prognostic and Therapeutic Value of Metabolism-Related Genes in Nephroblastoma: A Focus on the Key Gene NNMT and Its Regulative Effect on Metabolism.
PMID: 40574709
Cell Biochem Funct · 2025
0.90
3
Cyp27c1 Red-Shifts the Spectral Sensitivity of Photoreceptors by Converting Vitamin A1 into A2.
PMID: 26549260
Curr Biol · 2015
0.80
4
Cytochrome P450 27C1 Level Dictates Lung Cancer Tumorigenicity and Sensitivity towards Multiple Anticancer Agents and Its Potential Interplay with the IGF-1R/Akt/p53 Signaling Pathway.
PMID: 35887201
Int J Mol Sci · 2022
0.70
5
Genetic markers associated with plasma protein C level in African Americans: the atherosclerosis risk in communities (ARIC) study.
PMID: 25376901
Genet Epidemiol · 2014
0.60