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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CERS6
ceramide synthase 6
Chromosome 2 · 2q24.3
NCBI Gene: 253782Ensembl: ENSG00000172292.16HGNC: HGNC:23826UniProt: Q6ZMG9
65PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmembranesphingosine N-acyltransferase activityceramide biosynthetic processneurodegenerative diseasefrozen shoulderrespiratory tract infectious disordertype 2 diabetes mellitus
✦AI Summary

CERS6 (ceramide synthase 6) catalyzes the transfer of palmitoyl-CoA (C16:0-CoA) to sphingoid bases, producing C16:0-ceramides in de novo and salvage sphingolipid pathways 1. This enzyme is localized to the endoplasmic reticulum and possesses high selectivity for C16:0 acyl donors, though it can utilize other substrates with reduced efficiency 2. Mechanistically, CERS6-derived C16:0-ceramides function as signaling lipids with multiple metabolic effects. They specifically bind mitochondrial fission factor (Mff), promoting mitochondrial fragmentation under high-fat diet conditions 3. Additionally, CERS6-ceramides can interact with mitochondrial VDAC1, triggering mtDNA leakage and activating cGAS-STING inflammatory signaling 4. CLINICAL SIGNIFICANCE: CERS6 upregulation associates with multiple metabolic diseases. In obesity, elevated CERS6 expression in adipose tissue correlates with insulin resistance, and CerS6 deletion protects from high-fat-diet-induced obesity and glucose intolerance 5. In diabetic kidney disease and focal segmental glomerulosclerosis, increased podocyte CERS6 correlates negatively with glomerular filtration rate and positively with proteinuria 4. CERS6 also contributes to ulcerative colitis progression through sphingolipid dysregulation 6 and alcohol-associated liver disease development 7. Notably, a fungal-derived CerS6 inhibitor ameliorates metabolic dysfunction-associated steatohepatitis 8, positioning CERS6 inhibition as a therapeutic target for metabolic and inflammatory diseases.

Sources cited
1
CERS6 catalyzes transfer of acyl-CoA to sphingoid bases with high selectivity toward palmitoyl-CoA
PMID: 17609214
2
CERS6 can use other acyl donors with less efficiency than C16:0-CoA
PMID: 39528795
3
CerS6-derived C16:0 sphingolipids bind mitochondrial fission factor Mff and promote mitochondrial fragmentation in obesity
PMID: 31150623
4
CerS6-derived ceramide binds VDAC1, triggers mtDNA leakage and cGAS-STING signaling in diabetic kidney disease; CERS6 upregulation in DKD and FSGS patient podocytes correlates with reduced GFR and increased proteinuria
PMID: 39934147
5
CERS6 expression and C16:0 ceramides are elevated in obese humans and correlate with insulin resistance; CerS6 deletion protects from obesity and glucose intolerance
PMID: 25295788
6
FTO deficiency decreases CerS6 expression and promotes ulcerative colitis through S1P accumulation and inflammatory responses
PMID: 37734910
7
CERS6 is upregulated in alcohol-associated liver disease and contributes to hepatic steatosis and glucose intolerance
PMID: 37714377
8
Fungal-derived secondary metabolite FF-C1 inhibits CerS6 and ameliorates metabolic dysfunction-associated steatohepatitis progression
PMID: 40310917
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.35Weak
frozen shoulderOpen Targets
0.31Weak
respiratory tract infectious disorderOpen Targets
0.29Weak
type 2 diabetes mellitusOpen Targets
0.29Weak
placental retentionOpen Targets
0.28Weak
sleep apneaOpen Targets
0.27Weak
post term pregnancyOpen Targets
0.26Weak
hyperthyroidismOpen Targets
0.24Weak
carbuncleOpen Targets
0.20Weak
FuruncleOpen Targets
0.20Weak
iron metabolism diseaseOpen Targets
0.20Weak
major salivary gland cancerOpen Targets
0.19Weak
diabetes mellitusOpen Targets
0.17Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.16Weak
Varicose veinsOpen Targets
0.12Weak
femoral neck fractureOpen Targets
0.11Weak
pachyonychia congenitaOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CERS4Protein interaction98%ACER2Protein interaction97%ASAH1Protein interaction97%GALCProtein interaction97%GBA1Protein interaction97%SMPD1Protein interaction97%
Tissue Expression6 tissues
Heart
100%
Brain
99%
Bone Marrow
32%
Ovary
20%
Lung
14%
Liver
12%
Gene Interaction Network
Click a node to explore
CERS6CERS4ACER2ASAH1GALCGBA1SMPD1
PROTEIN STRUCTURE
Preparing viewer…
PDB8QZ7 · 3.00 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.43Tolerant
Observed/Expected LoF0.40 [0.28–0.59]
RankingsWhere CERS6 stands among ~20K protein-coding genes
  • #7,151of 20,598
    Most Researched65
  • #4,033of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedCERS6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A symbiotic filamentous gut fungus ameliorates MASH via a secondary metabolite-CerS6-ceramide axis.
PMID: 40310917
Science · 2025
1.00
2
Disruption of CerS6-mediated sphingolipid metabolism by FTO deficiency aggravates ulcerative colitis.
PMID: 37734910
Gut · 2024
0.90
3
CerS6-Derived Sphingolipids Interact with Mff and Promote Mitochondrial Fragmentation in Obesity.
PMID: 31150623
Cell · 2019
0.80
4
CerS6 links ceramide metabolism to innate immune responses in diabetic kidney disease.
PMID: 39934147
Nat Commun · 2025
0.70
5
CerS6-dependent ceramide synthesis in hypothalamic neurons promotes ER/mitochondrial stress and impairs glucose homeostasis in obese mice.
PMID: 38016943
Nat Commun · 2023
0.60