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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CYP26B1
cytochrome P450 family 26 subfamily B member 1
Chromosome 2 Β· 2p13.2
NCBI Gene: 56603Ensembl: ENSG00000003137.9HGNC: HGNC:20581UniProt: E7ER08
58PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmretinoic acid bindingxenobiotic metabolic processprotein bindinglethal occipital encephalocele-skeletal dysplasia syndromecraniosynostosisasthmatinea unguium
✦AI Summary

CYP26B1 is a cytochrome P450 monooxygenase that catalyzes the catabolism of retinoic acid (RA), the active metabolite of vitamin A, through 4-hydroxylation and oxidative metabolism 1. The enzyme also metabolizes xenobiotics including tazarotenic acid 2. CYP26B1 functions as a spatial regulator of RA signaling by limiting RA exposure in specific tissues; in the developing prefrontal cortex, CYP26B1 is upregulated in motor cortex regions to confine RA signaling to prospective prefrontal areas, thereby controlling cortical patterning, thalamic connectivity, and dendritic spine development 3. Loss-of-function mutations in CYP26B1 impair RA catabolism, leading to excessive RA accumulation with severe skeletal consequences including intrauterine fractures, femur angulation, and abnormal bone remodeling mediated through VEGFA overexpression and disrupted bone marrow vasculature 4. CYP26B1 mutations also predispose to lymphatic malformations by disrupting lymphangiogenesis through RA imbalance 5. Clinically, CYP26B1 inhibition represents a therapeutic strategy for keratinization disorders. The selective CYP26B1 inhibitor DX314 potentiates retinoid effects in ichthyosis and Darier disease while unexpectedly protecting epidermal barrier integrity 6. Dysregulation of CYP26-mediated RA metabolism also influences colorectal cancer ATRA sensitivity 7.

Sources cited
1
CYP26B1 catalyzes retinoic acid catabolism and protects tissues against premature RA exposure
PMID: 11606945
2
CYP26B1 metabolizes all-trans retinoic acid and the xenobiotic tazarotenic acid through oxidative mechanisms
PMID: 26937021
3
CYP26B1 regulates spatial RA signaling in developing prefrontal cortex, controlling cortical patterning and connectivity
PMID: 34599305
4
CYP26B1 deficiency causes excessive RA accumulation resulting in intrauterine skeletal fractures and bone remodeling through VEGFA-mediated mechanisms
PMID: 30003121
5
CYP26B1 variants predispose to lymphatic malformations through dysregulation of RA-dependent lymphangiogenesis
PMID: 32521127
6
CYP26B1-selective inhibitor DX314 potentiates retinoid therapeutic effects in keratinization disorders while protecting epidermal barrier
PMID: 32505549
7
CYP26A1 (CYP26 family member) upregulation contributes to ATRA resistance in colorectal cancer
PMID: 37944525
Disease Associationsβ“˜21
lethal occipital encephalocele-skeletal dysplasia syndromeOpen Targets
0.71Strong
craniosynostosisOpen Targets
0.41Moderate
asthmaOpen Targets
0.36Weak
tinea unguiumOpen Targets
0.35Weak
schizophreniaOpen Targets
0.35Weak
osteoarthritis, handOpen Targets
0.34Weak
placental retentionOpen Targets
0.32Weak
duodenitisOpen Targets
0.30Weak
placenta praeviaOpen Targets
0.30Weak
ovarian neoplasmOpen Targets
0.22Weak
lymphatic system diseaseOpen Targets
0.22Weak
Chronic Obstructive AsthmaOpen Targets
0.19Weak
diabetic ketoacidosisOpen Targets
0.19Weak
hemiplegiaOpen Targets
0.19Weak
genetic disorderOpen Targets
0.19Weak
spinal stenosisOpen Targets
0.10Weak
neoplasmOpen Targets
0.09Suggestive
erythrokeratodermia variabilisOpen Targets
0.06Suggestive
congenital left-sided heart lesionsOpen Targets
0.06Suggestive
vertebral disorderOpen Targets
0.06Suggestive
Radiohumeral fusions with other skeletal and craniofacial anomaliesUniProt
Pathogenic Variants6
NM_019885.4(CYP26B1):c.1190G>A (p.Arg397Gln)Likely pathogenic
not provided|Lethal occipital encephalocele-skeletal dysplasia syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 397
NM_019885.4(CYP26B1):c.3G>T (p.Met1Ile)Pathogenic
Lethal occipital encephalocele-skeletal dysplasia syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 1
NM_019885.4(CYP26B1):c.86C>A (p.Ser29Ter)Likely pathogenic
Lethal occipital encephalocele-skeletal dysplasia syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 29
NM_019885.4(CYP26B1):c.1088G>A (p.Arg363His)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 363
NM_019885.4(CYP26B1):c.1088G>T (p.Arg363Leu)Pathogenic
Lethal occipital encephalocele-skeletal dysplasia syndrome|not provided
β˜†β˜†β˜†β˜†2011β†’ Residue 363
NM_019885.4(CYP26B1):c.436T>C (p.Ser146Pro)Pathogenic
Lethal occipital encephalocele-skeletal dysplasia syndrome|not provided
β˜†β˜†β˜†β˜†2011β†’ Residue 146
View on ClinVar β†—
Related Genes
ALDH1A3Protein interaction97%ALDH1A1Protein interaction96%NANOS2Protein interaction96%CYP1A2Protein interaction95%CYP1A1Protein interaction94%CYP2S1Protein interaction94%
Tissue Expression6 tissues
Heart
100%
Brain
98%
Ovary
82%
Lung
31%
Liver
14%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CYP26B1ALDH1A3ALDH1A1NANOS2CYP1A2CYP1A1CYP2S1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NR63
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.37Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.21 [0.12–0.37]
RankingsWhere CYP26B1 stands among ~20K protein-coding genes
  • #7,854of 20,598
    Most Researched58
  • #3,384of 5,498
    Most Pathogenic Variants6
  • #1,724of 17,882
    Most Constrained (LOEUF)0.37 Β· top 10%
Genes detectedCYP26B1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Bones in human CYP26B1 deficiency and rats with hypervitaminosis A phenocopy
PMID: 30003121
Bone Rep Β· 2018
1.00
2
Regulation of prefrontal patterning and connectivity by retinoic acid.
PMID: 34599305
Nature Β· 2021
0.90
3
CYP26B1 and its implications in lymphangiogenesis: Literature review and study of rare variants in two families.
PMID: 32521127
Lymphology Β· 2020
0.80
4
Characterization of CYP26B1-Selective Inhibitor, DX314, as a Potential Therapeutic for Keratinization Disorders.
PMID: 32505549
J Invest Dermatol Β· 2021
0.70
5
Liarozole.
PMID: 8972247
Drugs Aging Β· 1996
0.60