HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CYP26C1
cytochrome P450 family 26 subfamily C member 1
Chromosome 10 Β· 10q23.33
NCBI Gene: 340665Ensembl: ENSG00000187553.10HGNC: HGNC:20577UniProt: Q6V0L0
17PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
retinoic acid 4-hydroxylase activityretinoic acid bindingretinoic acid catabolic processcentral nervous system developmentfocal facial dermal dysplasia type IVskin neoplasmsinusitisage-related hearing impairment
✦AI Summary

CYP26C1 is a cytochrome P450 monooxygenase that catalyzes the oxidative metabolism of retinoic acid (RA), the active form of vitamin A essential for embryonic development and retinoid homeostasis 1. Unlike other CYP26 family members, CYP26C1 exhibits distinct substrate specificity, efficiently metabolizing both all-trans-RA and 9-cis-RA isomers with high intrinsic clearance, and shows reduced sensitivity to ketoconazole inhibition 12. CYP26C1 is particularly efficient at hydroxylating 4-oxo-atRA, an active retinoid metabolite, and interacts with cellular retinoic acid binding proteins (CRABPs) to facilitate substrate delivery 3. The enzyme contributes to retinoic acid homeostasis and CNS patterning, particularly in developing regions of visual acuity 1. Dysregulation of CYP26C1 has emerged as clinically significant: loss-of-function variants in CYP26C1 co-segregate with optic nerve aplasia in familial cases 4 and act as a genetic modifier of SHOX deficiency severity by elevating retinoic acid levels 5. Conversely, elevated CYP26C1 expression occurs in approximately 33% of primary breast carcinomas, correlating with tumor proliferation markers and grade 6. Additionally, CYP26C1 promoter hypomethylation has been associated with small vessel stroke in Korean populations 7.

Sources cited
1
CYP26C1 is a cytochrome P450 that catalyzes oxidation of all-trans and 9-cis retinoic acid isomers, regulating RA homeostasis
PMID: 14532297
2
CYP26C1 efficiently metabolizes all-trans-RA and shows high-affinity binding to 9-cis-RA, with reduced sensitivity to ketoconazole inhibition compared to other CYP26s
PMID: 21906690
3
CYP26C1 has highest intrinsic clearance toward 9-cis-RA and is up to 10-fold more efficient at clearing 4-oxo-atRA; interacts with CRABPs for substrate delivery
PMID: 29476041
4
CYP26C1 microdeletion co-segregates with nonsyndromic optic nerve aplasia in a familial pedigree, implicating the gene in ocular development
PMID: 21850183
5
CYP26C1 variants act as genetic modifiers of SHOX deficiency by affecting retinoic acid catabolism, influencing disease severity
PMID: 27861128
6
CYP26C1 is elevated in 33% of primary breast carcinomas and correlates with tumor proliferation and grade
PMID: 26009309
7
CYP26C1 promoter hypomethylation is associated with small vessel occlusion stroke in human subjects
PMID: 34681016
Disease Associationsβ“˜21
focal facial dermal dysplasia type IVOpen Targets
0.50Moderate
skin neoplasmOpen Targets
0.37Weak
sinusitisOpen Targets
0.23Weak
age-related hearing impairmentOpen Targets
0.19Weak
familial hyperlipidemiaOpen Targets
0.17Weak
metabolic diseaseOpen Targets
0.17Weak
hyperlipidemiaOpen Targets
0.16Weak
alcohol drinkingOpen Targets
0.16Weak
HypercholesterolemiaOpen Targets
0.15Weak
open-angle glaucomaOpen Targets
0.15Weak
hearing lossOpen Targets
0.13Weak
familial lipoprotein lipase deficiencyOpen Targets
0.13Weak
Abnormality of the skeletal systemOpen Targets
0.13Weak
glaucomaOpen Targets
0.13Weak
refractive errorOpen Targets
0.12Weak
metabolic syndromeOpen Targets
0.11Weak
physical activityOpen Targets
0.11Weak
ovarian neoplasmOpen Targets
0.10Weak
ovarian dysfunctionOpen Targets
0.10Weak
Abruptio PlacentaeOpen Targets
0.10Suggestive
Focal facial dermal dysplasia 4UniProt
Pathogenic Variants3
NM_183374.3(CYP26C1):c.1238_1260del (p.Asp413fs)Likely pathogenic
Focal facial dermal dysplasia type IV
β˜…β˜†β˜†β˜†2026β†’ Residue 413
NM_183374.3(CYP26C1):c.1191+1G>ALikely pathogenic
Focal facial dermal dysplasia type IV
β˜…β˜†β˜†β˜†2024
NM_183374.3(CYP26C1):c.457_481del (p.Ala153fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 153
View on ClinVar β†—
Related Genes
CYP1A2Protein interaction95%CYP1A1Protein interaction94%CYP3A4Protein interaction94%STRA8Protein interaction93%CRABP2Protein interaction93%ALDH1A1Protein interaction92%
Tissue Expression6 tissues
Brain
100%
Ovary
43%
Liver
29%
Lung
29%
Bone Marrow
14%
Heart
0%
Gene Interaction Network
Click a node to explore
CYP26C1CYP1A2CYP1A1CYP3A4STRA8CRABP2ALDH1A1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6V0L0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.81LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.43 [1.12–1.81]
RankingsWhere CYP26C1 stands among ~20K protein-coding genes
  • #14,967of 20,598
    Most Researched17
  • #4,155of 5,498
    Most Pathogenic Variants3
  • #16,648of 17,882
    Most Constrained (LOEUF)1.81
Genes detectedCYP26C1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Functional properties and substrate characterization of human CYP26A1, CYP26B1, and CYP26C1 expressed by recombinant baculovirus in insect cells.
PMID: 21906690
J Pharmacol Toxicol Methods Β· 2011
1.00
2
A novel human cytochrome P450, CYP26C1, involved in metabolism of 9-cis and all-trans isomers of retinoic acid.
PMID: 14532297
J Biol Chem Β· 2004
0.90
3
CYP26C1 Is a Hydroxylase of Multiple Active Retinoids and Interacts with Cellular Retinoic Acid Binding Proteins.
PMID: 29476041
Mol Pharmacol Β· 2018
0.80
4
Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes.
PMID: 21850183
Mol Vis Β· 2011
0.70
5
Biochemical and physiological importance of the CYP26 retinoic acid hydroxylases.
PMID: 31419517
Pharmacol Ther Β· 2019
0.60