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GeneE
10 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.
CERS3
ceramide synthase 3
Chromosome 15 Β· 15q26.3
NCBI Gene: 204219Ensembl: ENSG00000154227.14HGNC: HGNC:23752UniProt: Q8IU89
27PubMed Papers
21Diseases
0Drugs
18Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ceramide biosynthetic processkeratinocyte differentiationsphingosine N-acyltransferase activityprotein bindingcongenital non-bullous ichthyosiform erythrodermalamellar ichthyosisautosomal recessive congenital ichthyosiscongenital reticular ichthyosiform erythroderma
✦AI Summary

CERS3 (ceramide synthase 3) is an endoplasmic reticulum-localized enzyme that catalyzes the synthesis of ceramides with very-long and ultra-long-chain fatty acids (>C22) 1. The enzyme transfers acyl chains from acyl-CoA to sphingoid bases, producing dihydroceramides and ceramides through both de novo synthesis and salvage pathways 1. CERS3 is crucial for epidermal lipid homeostasis and barrier function, specifically synthesizing acylceramides essential for stratum corneum formation 1. The enzyme's activity is regulated by acyl-CoA-binding protein (ACBP), which can increase CERS3 activity up to 7-fold by facilitating very-long-chain acyl-CoA substrate availability 2. CERS3 expression is modulated by inflammatory cytokines, with Th1/Th17 cytokines upregulating its expression in keratinocytes 3. Disease relevance includes autosomal recessive congenital ichthyosis type 9, where CERS3 mutations severely reduce acylceramide levels in the stratum corneum despite preserved protein-bound ceramide levels 1. Additionally, CERS3 plays roles in cancer progression, with elevated activity contributing to colorectal cancer through increased C26 ceramide production 4. Therapeutic targeting of CERS3 represents a promising approach for treating both skin barrier disorders and certain cancers.

Sources cited
1
CERS3 (ceramide synthase 3) is an endoplasmic reticulum-localized enzyme that catalyzes the synthesis of ceramides with very-long and ultra-long-chain fatty acids (>C22) .
PMID: 33492757
2
The enzyme's activity is regulated by acyl-CoA-binding protein (ACBP), which can increase CERS3 activity up to 7-fold by facilitating very-long-chain acyl-CoA substrate availability .
PMID: 28320857
3
CERS3 expression is modulated by inflammatory cytokines, with Th1/Th17 cytokines upregulating its expression in keratinocytes .
PMID: 40046180
4
Additionally, CERS3 plays roles in cancer progression, with elevated activity contributing to colorectal cancer through increased C26 ceramide production .
PMID: 40609532
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
congenital non-bullous ichthyosiform erythrodermaOpen Targets
0.69Moderate
lamellar ichthyosisOpen Targets
0.44Moderate
autosomal recessive congenital ichthyosisOpen Targets
0.38Weak
congenital reticular ichthyosiform erythrodermaOpen Targets
0.37Weak
Abnormality of the skinOpen Targets
0.33Weak
ichthyosisOpen Targets
0.27Weak
cervical carcinomaOpen Targets
0.25Weak
eye diseaseOpen Targets
0.23Weak
pathological myopiaOpen Targets
0.23Weak
musculoskeletal system diseaseOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
schizophreniaOpen Targets
0.17Weak
Genu valgumOpen Targets
0.12Weak
Genu varumOpen Targets
0.12Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
respiratory system diseaseOpen Targets
0.09Suggestive
diffuse nonepidermolytic palmoplantar keratodermaOpen Targets
0.05Suggestive
non-small cell lung carcinomaOpen Targets
0.05Suggestive
ichthyosis, congenital, autosomal recessive 14Open Targets
0.04Suggestive
Ichthyosis, congenital, autosomal recessive 9UniProt
Pathogenic Variants18
NM_001378789.1(CERS3):c.466-1G>TLikely pathogenic
Autosomal recessive congenital ichthyosis 9
β˜…β˜…β˜†β˜†2024
NM_001378789.1(CERS3):c.223C>T (p.Arg75Ter)Likely pathogenic
Abnormality of the skin|Autosomal recessive congenital ichthyosis 9
β˜…β˜…β˜†β˜†2024β†’ Residue 75
NM_001378789.1(CERS3):c.363del (p.Asn122fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 122
NM_001378789.1(CERS3):c.174-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001378789.1(CERS3):c.662del (p.Phe221fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 221
NM_001378789.1(CERS3):c.686G>A (p.Arg229His)Pathogenic
Lamellar ichthyosis
β˜…β˜†β˜†β˜†2025β†’ Residue 229
NM_001378789.1(CERS3):c.685C>T (p.Arg229Cys)Pathogenic
Lamellar ichthyosis
β˜…β˜†β˜†β˜†2024β†’ Residue 229
NM_001378789.1(CERS3):c.609+1G>TLikely pathogenic
Autosomal recessive congenital ichthyosis 9|Ichthyosis
β˜…β˜†β˜†β˜†2024
NM_001378789.1(CERS3):c.303_304dup (p.Leu102fs)Likely pathogenic
Autosomal recessive congenital ichthyosis 9
β˜…β˜†β˜†β˜†2024β†’ Residue 102
NM_001378789.1(CERS3):c.565del (p.Tyr189fs)Likely pathogenic
Autosomal recessive congenital ichthyosis 9
β˜…β˜†β˜†β˜†2024β†’ Residue 189
NM_001378789.1(CERS3):c.873del (p.Met292fs)Likely pathogenic
Autosomal recessive congenital ichthyosis 9
β˜…β˜†β˜†β˜†2024β†’ Residue 292
NM_001378789.1(CERS3):c.43T>A (p.Trp15Arg)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 15
NM_001378789.1(CERS3):c.915C>A (p.Asn305Lys)Likely pathogenic
Abnormality of the skin
β˜…β˜†β˜†β˜†2021β†’ Residue 305
NM_001378789.1(CERS3):c.465+2T>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2021
NM_001378789.1(CERS3):c.46del (p.Leu16fs)Likely pathogenic
Autosomal recessive congenital ichthyosis 9
β˜…β˜†β˜†β˜†2019β†’ Residue 16
NM_001378789.1(CERS3):c.731G>A (p.Trp244Ter)Pathogenic
Autosomal recessive congenital ichthyosis 9
β˜…β˜†β˜†β˜†2018β†’ Residue 244
NM_001378789.1(CERS3):c.540G>A (p.Trp180Ter)Pathogenic
Autosomal recessive congenital ichthyosis 9
β˜…β˜†β˜†β˜†β†’ Residue 180
NM_001378789.1(CERS3):c.43T>C (p.Trp15Arg)Pathogenic
Autosomal recessive congenital ichthyosis 9
β˜†β˜†β˜†β˜†2013β†’ Residue 15
View on ClinVar β†—
Related Genes
ACER2Protein interaction97%SGMS1Protein interaction97%GALCProtein interaction96%GBA1Protein interaction96%SMPD1Protein interaction96%SMPD2Protein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
52%
Liver
28%
Brain
26%
Lung
20%
Heart
0%
Gene Interaction Network
Click a node to explore
CERS3ACER2SGMS1GALCGBA1SMPD1SMPD2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8IU89
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.14LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.82 [0.59–1.14]
RankingsWhere CERS3 stands among ~20K protein-coding genes
  • #12,527of 20,598
    Most Researched27
  • #2,302of 5,498
    Most Pathogenic Variants18
  • #11,833of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedCERS3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Meta-Analysis of Mutations in
PMID: 33435499
Genes (Basel) Β· 2021
1.00
2
Microbial riboflavin inhibits ceramide synthase 3 to lower ceramide (d18:1/26:0) and delay colorectal cancer progression.
PMID: 40609532
Cell Metab Β· 2025
0.90
3
Mammalian ceramide synthases.
PMID: 20222015
IUBMB Life Β· 2010
0.80
4
Effects of Th1/Th17 and Th2 cytokines on lipid metabolism in differentiated keratinocytes.
PMID: 40046180
Front Physiol Β· 2025
0.70
5
S1PR1 induces metabolic reprogramming of ceramide in vascular endothelial cells, affecting hepatocellular carcinoma angiogenesis and progression.
PMID: 36068200
Cell Death Dis Β· 2022
0.60