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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UGCG
UDP-glucose ceramide glucosyltransferase
Chromosome 9 · 9q31.3
NCBI Gene: 7357Ensembl: ENSG00000148154.11HGNC: HGNC:12524UniProt: Q16739
72PubMed Papers
20Diseases
5Drugs
0Pathogenic Variants
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingglucosylceramide biosynthetic processGolgi membraneceramide glucosyltransferase activityGaucher diseaseNiemann-Pick disease type CGaucher disease type 1Fabry disease
✦AI Summary

UGCG (UDP-glucose ceramide glucosyltransferase) is a key enzyme that catalyzes the initial step of glycosphingolipid biosynthesis by transferring glucose from UDP-glucose to ceramide, producing glucosylceramide at the cytosolic surface of the Golgi 12. This glucosylceramide serves as the precursor for all glycosphingolipids, which are essential membrane components involved in cellular processes including signal transduction, membrane trafficking, and cell differentiation 3. UGCG plays critical roles in immune cell function, being selectively required for natural killer cell generation and CD8+ T cell expansion during viral infections through its regulation of cytotoxic granules 4. In cardiac tissue, UGCG is essential for maintaining β-adrenergic receptor trafficking and contractile capacity, with deficiency leading to heart failure 25. The enzyme is clinically significant as it is overexpressed in various cancers and correlates with multidrug resistance through its connection to MDR1 protein expression 3. UGCG inhibition has shown therapeutic potential in cancer treatment, particularly in overcoming resistance to lysosomal autophagy inhibition and MAPK pathway inhibitors in melanoma 67. The FDA-approved UGCG inhibitor eliglustat represents a promising therapeutic approach for cancer treatment 6.

Sources cited
1
UGCG involvement in sphingolipid metabolism and platelet autophagy through AMPK-MTOR pathway
PMID: 33749503
2
UGCG deficiency in heart compromises β1-adrenergic receptor trafficking and leads to heart failure
PMID: 34297830
3
UGCG overexpression in cancer correlates with MDR1 and multidrug resistance
PMID: 29409484
4
UGCG selective requirement for NK cell generation and CD8+ T cell expansion
PMID: 40306279
5
UGCG modulates heart hypertrophy through mitochondrial oxidative stress and ERK signaling
PMID: 37658291
6
UGCG targeting overcomes resistance to lysosomal autophagy inhibition in cancer
PMID: 36331284
7
UGCG role in melanoma drug tolerance and therapeutic targeting with MAPK inhibitors
PMID: 37616051
Disease Associationsⓘ20
Gaucher diseaseOpen Targets
0.58Moderate
Niemann-Pick disease type COpen Targets
0.50Moderate
Gaucher disease type 1Open Targets
0.47Moderate
Fabry diseaseOpen Targets
0.39Weak
Niemann-Pick diseaseOpen Targets
0.38Weak
neurodegenerative diseaseOpen Targets
0.37Weak
bone diseaseOpen Targets
0.37Weak
metabolic diseaseOpen Targets
0.37Weak
glycogen storage disease IIOpen Targets
0.37Weak
ThrombocytopeniaOpen Targets
0.37Weak
anemiaOpen Targets
0.37Weak
HepatosplenomegalyOpen Targets
0.37Weak
Glycogen storage disease due to acid maltase deficiencyOpen Targets
0.32Weak
Second degree atrioventricular blockOpen Targets
0.32Weak
Visual impairmentOpen Targets
0.31Weak
vascular diseaseOpen Targets
0.30Weak
alcohol drinkingOpen Targets
0.30Weak
Sandhoff diseaseOpen Targets
0.29Weak
Gaucher disease type 3Open Targets
0.28Weak
GM2 gangliosidosisOpen Targets
0.26Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets5
ELIGLUSTATApproved
Ceramide glucosyltransferase inhibitor
Gaucher disease
ELIGLUSTAT TARTRATEApproved
Ceramide glucosyltransferase inhibitor
Thrombocytopenia
LUCERASTATPhase III
Ceramide glucosyltransferase inhibitor
Fabry disease
MIGLUSTATApproved
Ceramide glucosyltransferase inhibitor
Niemann-Pick disease type C
VENGLUSTATPhase III
Ceramide glucosyltransferase inhibitor
Sandhoff disease
Related Genes
CHIT1Protein interaction99%B4GALT6Protein interaction99%ASAH1Protein interaction98%GALCProtein interaction98%GBA1Protein interaction98%SMPD1Protein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
27%
Brain
18%
Liver
14%
Ovary
10%
Heart
9%
Gene Interaction Network
Click a node to explore
UGCGCHIT1B4GALT6ASAH1GALCGBA1SMPD1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q16739
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.36Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.19 [0.11–0.36]
RankingsWhere UGCG stands among ~20K protein-coding genes
  • #6,597of 20,598
    Most Researched72
  • #478of 1,025
    FDA-Approved Drug Targets3
  • #1,612of 17,882
    Most Constrained (LOEUF)0.36 · top 10%
Genes detectedUGCG
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Peroxisome disruption alters lipid metabolism and potentiates antitumor response with MAPK-targeted therapy in melanoma.
PMID: 37616051
J Clin Invest · 2023
1.00
2
Integrated lipidomics and network pharmacology analysis to reveal the mechanisms of berberine in the treatment of hyperlipidemia.
PMID: 36076294
J Transl Med · 2022
0.90
3
Targeting UGCG Overcomes Resistance to Lysosomal Autophagy Inhibition.
PMID: 36331284
Cancer Discov · 2023
0.80
4
Selective requirement of glycosphingolipid synthesis for natural killer and cytotoxic T cells.
PMID: 40306279
Cell · 2025
0.70
5
UGCG modulates heart hypertrophy through B4GalT5-mediated mitochondrial oxidative stress and the ERK signaling pathway.
PMID: 37658291
Cell Mol Biol Lett · 2023
0.60