Protein / target

Ceramide glucosyltransferase

UGCGQ16739Homo sapiensSwiss-Prot
UniProt: Q16739Ensembl: ENSG00000148154HGNC: HGNC:12524NCBI Gene: 7357
Clinically validated
Therapeutic maturity
3
Approved medicines
20
Clinical trials
Small-molecule tractable
Druggability
Approved Drug

Protein at a glance

Biological role

Ceramide glucosyltransferase activity

Primary system

Nervous system

Strongest disease association

Gaucher disease

Clinical evidence · score 0.58

Therapeutic maturity

Clinically validated target

3 approved medicines against this target

Druggability

Small molecule

Open Targets tractability · Approved Drug

Clinical development

3 approved · 2 in clinical development

20 linked trials

Derived from structured UniProt, Open Targets and literature data on this page.

Protein profile

UniProt 2026_02

Canonical identity and biological annotation from UniProt.

Function

Participates in the initial step of the glucosylceramide-based glycosphingolipid/GSL synthetic pathway at the cytosolic surface of the Golgi (PubMed:1532799, PubMed:8643456). Catalyzes the transfer of glucose from UDP-glucose to ceramide to produce glucosylceramide/GlcCer (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) (PubMed:1532799, PubMed:8643456). GlcCer is the core component of glycosphingolipids/GSLs, amphipathic molecules consisting of a ceramide lipid moiety embedded in the outer leaflet of the membrane, linked to one of hundreds of different externally oriented oligosaccharide structures (PubMed:8643456). Glycosphingolipids are essential components of membrane microdomains that mediate membrane trafficking and signal transduction, implicated in many fundamental cellular processes, including growth, differentiation, migration, morphogenesis, cell-to-cell and cell-to-matrix interactions (By similarity). They are required for instance in the proper development and functioning of the nervous system (By similarity). As an example of their role in signal transduction, they regulate the leptin receptor/LEPR in the leptin-mediated signaling pathway (By similarity). They also play an important role in the establishment of the skin barrier regulating keratinocyte differentiation and the proper assembly of the cornified envelope (By similarity). The biosynthesis of GSLs is also required for the proper intestinal endocytic uptake of nutritional lipids (By similarity). Catalyzes the synthesis of xylosylceramide/XylCer (such as beta-D-xylosyl-(1<->1')-N-acylsphing-4-enine) using UDP-Xyl as xylose donor (PubMed:33361282)

Subcellular location

Golgi apparatus membrane
Domains and Gene Ontology detail (15)

Gene Ontology

  • CGolgi membrane
  • Cmembrane
  • Fceramide glucosyltransferase activity
  • Pcell differentiation
  • Pcornified envelope assembly
  • Pepidermis development
  • Pestablishment of skin barrier
  • Pglucosylceramide biosynthetic process
  • Pglycosphingolipid biosynthetic process
  • Pintestinal lipid absorption
  • Pkeratinocyte differentiation
  • Pleptin-mediated signaling pathway

394 aa · 45 kDa

Biological roles

Reactome v97

What this protein does, drawn together from its UniProt function, Gene Ontology terms and Reactome pathways.

Metabolic enzyme activityGO
View supporting evidence

Metabolic enzyme activity

  • ·ceramide glucosyltransferase activity
View underlying pathways (1)
Glycosphingolipid biosynthesis

Concepts derived from UniProt GO Reactome — each badge above shows which sources supported that role.

Interaction neighbourhood

STRING v12.0

Proteins with the strongest functional or physical association. Node size and line weight reflect STRING confidence; hover or select a partner to inspect one association.

GBAB4GALT6CERKGBA2SMPD2CERS6DEGS1ASAH1CERS2SMPD1UGCG

10 strongest partners — larger node and heavier line mean higher confidence

Functional and physical associations from STRING v12.0. Only associations with this protein are drawn — partner-to-partner links are not part of this evidence.

Drugs targeting this protein

1

Whether each drug engages this protein directly or through a complex, and how many other targets are recorded for it. Direct binders with few recorded targets are listed first.

miglustat
Narrow target profileApprovedInhibitor

Ceramide glucosyltransferase inhibitor

Appears in clinical studies involving Niemann-Pick disease type C, Gaucher disease, Gaucher disease type 1, Niemann-Pick disease

Direct interaction with this protein · Only this protein recorded as a target

ChEMBL mechanism, action type and target identity. Open Targets clinical status and indications.

Translational evidence

Open Targets 26

Why this target matters therapeutically — disease associations, drugs in development, tractability and safety, from Open Targets.

Highest-confidence therapeutic associations

Diseases where a drug acting on this target has already reached clinical development.

Gaucher disease0.94

Clinical · overall 0.58

Gaucher disease type 10.82

Clinical · overall 0.50

Niemann-Pick disease type C0.81

Clinical · overall 0.50

Glycogen storage disease due to acid maltase deficiency0.81

Clinical · overall 0.49

Fabry disease0.63

Clinical · overall 0.39

Highest overall evidence

Remaining associations by Open Targets' aggregated evidence score.

Niemann-Pick disease0.38

Clinical

neurodegenerative disease0.37

Pathway

metabolic disease0.37

Clinical

Thrombocytopenia0.37

Clinical

Hepatosplenomegaly0.37

Clinical

Show all associations
Gaucher disease0.58
Gaucher disease type 10.50
Niemann-Pick disease type C0.50
Glycogen storage disease due to acid maltase deficiency0.49
Fabry disease0.39
Niemann-Pick disease0.38
neurodegenerative disease0.37
metabolic disease0.37
Thrombocytopenia0.37
Hepatosplenomegaly0.37

Open Targets ranks 304 associations for this target and we store the top 10 by aggregated score. The long tail is largely literature co-mention and RNA-expression evidence, not evidence that this target drives those diseases.

Known drugs · 5 total

VENGLUSTATPhase 3

GM1 gangliosidosis · Tay-Sachs disease · sialidosis type 1

LUCERASTATPhase 3

Fabry disease · neuropathic pain · Fabry disease

ELIGLUSTAT TARTRATEApproval

Thrombocytopenia · Gaucher disease · Hepatosplenomegaly

MIGLUSTATApproval

Niemann-Pick disease type C · Gaucher disease · Gaucher disease type 1

ELIGLUSTATApproval

Gaucher disease · Gaucher disease type 1 · Gaucher disease type 3

Tractability

SM · Approved DrugSM · High-Quality LigandSM · Druggable FamilyAB · UniProt SigP or TMHMMPR · Database UbiquitinationPR · Half-life DataPR · Small Molecule Binder

Clinical trials

20

Trials of drugs that target this protein — reached indirectly through those drugs, so a trial listed here studies the drug, not the protein.

Single Center, Double-blind, Randomized, Placebo-controlled, 2-period/2-treatment Crossover Study Investigating the Effect of Miglustat on the Nasal Potential Difference in Patients With Cystic Fibrosis Homozygous for the ΔF508 MutationPHASE2

TERMINATED · via miglustat · NCT00537602

Open-label, Non Comparative, Multi-center Study to Evaluate the Long Term Efficacy, Safety and Tolerability of Oral Miglustat as a Maintenance Therapy After a Switch From Enzyme Replacement Therapy in Adult Patients With Stable Type 1 Gaucher DiseasePHASE3

COMPLETED · via miglustat · NCT00319046

Phase 2 Pharmacological Trial to Evaluate the Safety of Miglustat Administration in Subjects With Spastic Paraplegia 11 (TreatSPG11)PHASE2

COMPLETED · via miglustat · NCT04768166

Phase I Rising Dose Tolerability Study of SC-48334 in Patients With Acquired Immunodeficiency Syndrome (AIDS) and Advanced AIDS Related ComplexPHASE1

COMPLETED · via miglustat · NCT00000692

Phase II Study of the Safety and Surrogate Marker Efficacy of Butyldeoxynojirimycin (SC-48334) and AZT in Symptomatic HIV-1 Infected Patients With 200 - 500 CD4+ Cells/mm3. (NOTE: Asymptomatic HIV-1 Infected Patients Also Eligible)PHASE2

COMPLETED · via miglustat · NCT00002079

Initial Phase II Efficacy and Safety Study of SC-48334 Administered in Combination With Low-Dose Zidovudine (AZT) to Symptomatic HIV-1 Infected Patients With = or > 200 to = or < 500 CD4+ Cells/mm3PHASE2

COMPLETED · via miglustat · NCT00001993

Show remaining trials (14)
An Open-label Study to Evaluate the Safety, Efficacy, Pharmacokinetics, Pharmacodynamics, and Immunogenicity of Cipaglucosidase Alfa/Miglustat in Both ERT-experienced and ERT-naïve Pediatric Subjects With Infantile-onset Pompe Disease Aged 0 to < 18 YearsPHASE3

RECRUITING · via miglustat · NCT04808505

Glycosphingolipid Inhibition and Spermatogenesis in Man: A Pilot StudyPHASE4

COMPLETED · via miglustat · NCT00194649

Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset GM2 Gangliosidosis: Single and Steady State Oral DosesPHASE3

COMPLETED · via miglustat · NCT00672022

Evaluation of Combination Therapy With Miglustat and Enzyme Replacement Therapy on Gaucher Disease Type IIIBNA

UNKNOWN · via miglustat · NCT02520934

Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis: Single and Multiple Oral DosesPHASE2

COMPLETED · via miglustat · NCT00418847

Does a Nasal Instillation of Miglustat Normalize the Nasal Potential Difference in Cystic Fibrosis Patients Homozygous for the F508del Mutation? A Randomized, Double Blind Placebo-controlled Study.PHASE2

COMPLETED · via miglustat · NCT00945347

Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G)PHASE4

TERMINATED · via miglustat · NCT02030015

Application of Miglustat in Patients With Niemann-Pick Type CPHASE3

COMPLETED · via miglustat · NCT01760564

A Single Arm Uncontrolled 12 Months Clinical Study to Evaluate the Safety and Efficacy of Miglustat (Zavesca) for the Treatment of Niemann Pick Type C Disease (NPC) in Chinese SubjectsPHASE4

COMPLETED · via miglustat · NCT03910621

Single Center, Double-blind, Randomized, Placebo-controlled, Two-period/Two-treatment Crossover Study Investigating the Effect of Miglustat on the Nasal Potential Difference in Patients With Cystic Fibrosis Homozygous for the F508del MutationPHASE2

COMPLETED · via miglustat · NCT00742092

Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs DiseasesPHASE3

TERMINATED · via miglustat · NCT03822013

A Phase 3 Double-blind Randomized Study to Assess the Efficacy and Safety of Intravenous ATB200 Co-administered With Oral AT2221 in Adult Subjects With Late-onset Pompe Disease Compared With Alglucosidase Alfa/PlaceboPHASE3

COMPLETED · via miglustat · NCT03729362

An Open-label Study of the Safety, Pharmacokinetics, Efficacy, Pharmacodynamics, and Immunogenicity of Cipaglucosidase Alfa/Miglustat in Pediatric Subjects Aged 0 to < 18 Years With Late-onset Pompe DiseasePHASE3

ACTIVE_NOT_RECRUITING · via miglustat · NCT03911505

A Phase II Randomized Controlled Study of Miglustat in Adult and Juvenile Patients With Niemann-Pick Type C DiseasePHASE2

COMPLETED · via miglustat · NCT00517153

ClinicalTrials.gov via the drug-target graph.

Forefront confidence

Synthesis

Our own weighting of the evidence behind each disease association. Human genetics and clinical evidence count for most; literature co-mention counts for little, because two entities sharing an abstract is not evidence that one drives the other.

Gaucher diseaseModerately supported
0.72
agreement 0.56–0.87
Clinical96%Literature4%

Open Targets aggregate 0.58 · 2 independent evidence families

Gaucher disease type 1Moderately supported
0.62
agreement 0.47–0.78
Clinical97%Literature3%

Open Targets aggregate 0.50 · 2 independent evidence families

Niemann-Pick disease type CModerately supported
0.62
agreement 0.46–0.77
Clinical98%Literature2%

Open Targets aggregate 0.50 · 2 independent evidence families

Glycogen storage disease due to acid maltase deficiencyModerately supported
0.61
agreement 0.44–0.77
Clinical100%

Open Targets aggregate 0.49 · 1 independent evidence family

Fabry diseaseLimited support
0.49
agreement 0.33–0.64
Clinical95%Literature5%

Open Targets aggregate 0.39 · 2 independent evidence families

The evidence agreement range shows how closely the independent evidence families agree — it is not a statistical confidence interval, and nothing here is fitted to outcome data. Derived from Open Targets evidence types under Forefront weighting; the underlying per-type scores are shown above so the calculation can be checked.

What's happening now

7

Recent activity around this target, drawn from one canonical event stream. Every item is reached through a drug that targets this protein, so each event is news about that drug rather than about the protein directly.

  1. New publication2023-07-21
    Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.

    Orphanet journal of rare diseases · 2023 · 10 citations · Europe PMC · via miglustat

  2. Regulatory approval2023-06-26

    Approval: Opfolda (EMA)

    ema · regulatory · ema · via miglustat

  3. Regulatory approval2019-02-18

    Approval: Miglustat Dipharma (EMA)

    ema · regulatory · ema · via miglustat

  4. Regulatory approval2017-11-09

    Approval: Miglustat Gen.Orph (EMA)

    ema · regulatory · ema · via miglustat

  5. Regulatory approval2017-03-22

    Approval: Yargesa (EMA)

    ema · regulatory · ema · via miglustat

  6. New publication2012-12-27
    Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study.

    Orphanet journal of rare diseases · 2012 · 32 citations · Europe PMC · via miglustat

  7. Regulatory approval2002-11-20

    Approval: Zavesca (EMA)

    ema · regulatory · ema · via miglustat

Objective event titles are shown unmodified; the event kind and significance line are derived from structured fields. Forefront AttentionEvent stream aggregating Europe PMC Regulatory filings ClinicalTrials.gov.