Hmdb loader
Record Information
Version5.0
StatusDetected but not Quantified
Creation Date2005-11-16 15:48:42 UTC
Update Date2022-03-07 02:49:24 UTC
HMDB IDHMDB0004974
Secondary Accession Numbers
  • HMDB04974
Metabolite Identification
Common NameGlcCer(d18:1/22:0)
DescriptionGlcCer(d18:1/22:0) is a glycosphingolipid (ceramide and oligosaccharide)or oligoglycosylceramide with one or more sialic acids (i.e. n-acetylneuraminic acid) linked on the sugar chain. It is a component the cell plasma membrane which modulates cell signal transduction events. Gangliosides have been found to be highly important in immunology. Ganglioside GL1a carries a net-negative charge at pH 7.0 and is acidic. Gangliosides can amount to 6% of the weight of lipids from brain, but they are found at low levels in all animal tissues.Cerebrosides are glycosphingolipids. There are four types of glycosphingolipids, the cerebrosides, sulfatides, globosides and gangliosides. Cerebrosides have a single sugar group linked to ceramide. The most common are galactocerebrosides (containing galactose), the least common are glucocerebrosides (containing glucose). Galactocerebrosides are found predominantly in neuronal cell membranes. In contrast glucocerebrosides are not normally found in membranes. Instead, they are typically intermediates in the synthesis or degradation of more complex glycosphingolipids. Galactocerebrosides are synthesized from ceramide and UDP-galactose. Excess lysosomal accumulation of glucocerebrosides is found in Gaucher disease.
Structure
Data?1582752336
Synonyms
ValueSource
beta-D-Glucopyranosyl-N-(docosanoyl)sphingosineChEBI
beta-D-Glucosyl-N-(behenoyl)sphingosineChEBI
beta-D-Glucosyl-N-docosanoylsphingosineChEBI
beta-GlcCerChEBI
beta-GlucosylceramideChEBI
C22 GlcCerChEBI
CMHChEBI
GlcCer(D18:1/22:0)ChEBI
N-(Docosanoyl)-1-beta-glucosyl-sphing-4-enineChEBI
b-D-Glucopyranosyl-N-(docosanoyl)sphingosineGenerator
Β-D-glucopyranosyl-N-(docosanoyl)sphingosineGenerator
b-D-Glucosyl-N-(behenoyl)sphingosineGenerator
Β-D-glucosyl-N-(behenoyl)sphingosineGenerator
b-D-Glucosyl-N-docosanoylsphingosineGenerator
Β-D-glucosyl-N-docosanoylsphingosineGenerator
b-GlcCerGenerator
Β-glccerGenerator
b-GlucosylceramideGenerator
Β-glucosylceramideGenerator
N-(Docosanoyl)-1-b-glucosyl-sphing-4-enineGenerator
N-(Docosanoyl)-1-β-glucosyl-sphing-4-enineGenerator
b-D-Glucosyl-N-(docosanoyl)sphingosineHMDB
Β-D-glucosyl-N-(docosanoyl)sphingosineHMDB
1-O-b-D-Glucopyranosyl-ceramideHMDB
1-O-beta-delta-Glucopyranosyl-ceramideHMDB
Ganglioside GL1aHMDB
Gaucher cerebrosideHMDB
GLC-beta1->1'cerHMDB
GlcCeramideHMDB
GlucocerebrosideHMDB
GlucosylceramideHMDB
Glucosylceramide (D18:1/22:0)ChEBI
Chemical FormulaC46H89NO8
Average Molecular Weight784.2008
Monoisotopic Molecular Weight783.658818829
IUPAC NameN-[(2S,3R,4E)-3-hydroxy-1-{[(2R,3R,4S,5S,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy}octadec-4-en-2-yl]docosanamide
Traditional NameCMH
CAS Registry NumberNot Available
SMILES
CCCCCCCCCCCCCCCCCCCCCC(=O)N[C@@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)[C@H](O)\C=C\CCCCCCCCCCCCC
InChI Identifier
InChI=1S/C46H89NO8/c1-3-5-7-9-11-13-15-17-18-19-20-21-22-24-26-28-30-32-34-36-42(50)47-39(38-54-46-45(53)44(52)43(51)41(37-48)55-46)40(49)35-33-31-29-27-25-23-16-14-12-10-8-6-4-2/h33,35,39-41,43-46,48-49,51-53H,3-32,34,36-38H2,1-2H3,(H,47,50)/b35-33+/t39-,40+,41+,43+,44-,45+,46+/m0/s1
InChI KeyYIGARKIIFOHVPF-CNUVFPMCSA-N
Chemical Taxonomy
Description Belongs to the class of organic compounds known as glycosyl-n-acylsphingosines. Glycosyl-N-acylsphingosines are compounds containing a sphingosine linked to a simple glucosyl moiety.
KingdomOrganic compounds
Super ClassLipids and lipid-like molecules
ClassSphingolipids
Sub ClassGlycosphingolipids
Direct ParentGlycosyl-N-acylsphingosines
Alternative Parents
Substituents
  • Glycosyl-n-acylsphingosine
  • Fatty acyl glycoside
  • Fatty acyl glycoside of mono- or disaccharide
  • Alkyl glycoside
  • Hexose monosaccharide
  • Glycosyl compound
  • O-glycosyl compound
  • Fatty amide
  • Fatty acyl
  • Monosaccharide
  • N-acyl-amine
  • Oxane
  • Carboxamide group
  • Secondary carboxylic acid amide
  • Secondary alcohol
  • Acetal
  • Carboxylic acid derivative
  • Oxacycle
  • Organoheterocyclic compound
  • Polyol
  • Hydrocarbon derivative
  • Organic oxide
  • Organopnictogen compound
  • Alcohol
  • Organic oxygen compound
  • Organic nitrogen compound
  • Primary alcohol
  • Carbonyl group
  • Organooxygen compound
  • Organonitrogen compound
  • Aliphatic heteromonocyclic compound
Molecular FrameworkAliphatic heteromonocyclic compounds
External Descriptors
Ontology
Physiological effect
Disposition
Biological locationRoute of exposureSource
Process
Role
Physical Properties
StateSolid
Experimental Molecular Properties
PropertyValueReference
Melting PointNot AvailableNot Available
Boiling PointNot AvailableNot Available
Water Solubility0Not Available
LogPNot AvailableNot Available
Experimental Chromatographic PropertiesNot Available
Predicted Molecular Properties
PropertyValueSource
Water Solubility0.00028 g/LALOGPS
logP8.85ALOGPS
logP11.76ChemAxon
logS-6.4ALOGPS
pKa (Strongest Acidic)12.18ChemAxon
pKa (Strongest Basic)0.019ChemAxon
Physiological Charge0ChemAxon
Hydrogen Acceptor Count8ChemAxon
Hydrogen Donor Count6ChemAxon
Polar Surface Area148.71 ŲChemAxon
Rotatable Bond Count39ChemAxon
Refractivity225.8 m³·mol⁻¹ChemAxon
Polarizability101.28 ųChemAxon
Number of Rings1ChemAxon
BioavailabilityNoChemAxon
Rule of FiveNoChemAxon
Ghose FilterNoChemAxon
Veber's RuleNoChemAxon
MDDR-like RuleNoChemAxon
Predicted Chromatographic Properties

Predicted Collision Cross Sections

PredictorAdduct TypeCCS Value (Å2)Reference
DeepCCS[M+H]+277.5830932474
DeepCCS[M-H]-275.75530932474
DeepCCS[M-2H]-309.65230932474
DeepCCS[M+Na]+283.42730932474
AllCCS[M+H]+298.632859911
AllCCS[M+H-H2O]+298.632859911
AllCCS[M+NH4]+298.632859911
AllCCS[M+Na]+298.632859911
AllCCS[M-H]-288.332859911
AllCCS[M+Na-2H]-292.732859911
AllCCS[M+HCOO]-297.632859911

Predicted Kovats Retention Indices

Derivatized

Derivative Name / StructureSMILESKovats RI ValueColumn TypeReference
GlcCer(d18:1/22:0),1TMS,isomer #1CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO[Si](C)(C)C)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC5780.2Semi standard non polar33892256
GlcCer(d18:1/22:0),1TMS,isomer #1CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO[Si](C)(C)C)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC5425.2Standard non polar33892256
GlcCer(d18:1/22:0),1TMS,isomer #1CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO[Si](C)(C)C)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC7173.5Standard polar33892256
GlcCer(d18:1/22:0),1TMS,isomer #2CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O[Si](C)(C)C)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC5790.6Semi standard non polar33892256
GlcCer(d18:1/22:0),1TMS,isomer #2CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O[Si](C)(C)C)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC5433.2Standard non polar33892256
GlcCer(d18:1/22:0),1TMS,isomer #2CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O[Si](C)(C)C)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC7067.1Standard polar33892256
GlcCer(d18:1/22:0),1TMS,isomer #3CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O[Si](C)(C)C)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC5777.3Semi standard non polar33892256
GlcCer(d18:1/22:0),1TMS,isomer #3CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O[Si](C)(C)C)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC5422.5Standard non polar33892256
GlcCer(d18:1/22:0),1TMS,isomer #3CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O[Si](C)(C)C)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC7059.2Standard polar33892256
GlcCer(d18:1/22:0),1TMS,isomer #4CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O[Si](C)(C)C)NC(=O)CCCCCCCCCCCCCCCCCCCCC5769.1Semi standard non polar33892256
GlcCer(d18:1/22:0),1TMS,isomer #4CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O[Si](C)(C)C)NC(=O)CCCCCCCCCCCCCCCCCCCCC5429.2Standard non polar33892256
GlcCer(d18:1/22:0),1TMS,isomer #4CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O[Si](C)(C)C)NC(=O)CCCCCCCCCCCCCCCCCCCCC7101.7Standard polar33892256
GlcCer(d18:1/22:0),1TMS,isomer #5CCCCCCCCCCCCC/C=C/[C@@H](O[Si](C)(C)C)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC5883.2Semi standard non polar33892256
GlcCer(d18:1/22:0),1TMS,isomer #5CCCCCCCCCCCCC/C=C/[C@@H](O[Si](C)(C)C)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC5311.6Standard non polar33892256
GlcCer(d18:1/22:0),1TMS,isomer #5CCCCCCCCCCCCC/C=C/[C@@H](O[Si](C)(C)C)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC7041.5Standard polar33892256
GlcCer(d18:1/22:0),1TMS,isomer #6CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)N(C(=O)CCCCCCCCCCCCCCCCCCCCC)[Si](C)(C)C5749.8Semi standard non polar33892256
GlcCer(d18:1/22:0),1TMS,isomer #6CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)N(C(=O)CCCCCCCCCCCCCCCCCCCCC)[Si](C)(C)C5402.4Standard non polar33892256
GlcCer(d18:1/22:0),1TMS,isomer #6CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)N(C(=O)CCCCCCCCCCCCCCCCCCCCC)[Si](C)(C)C7146.8Standard polar33892256
GlcCer(d18:1/22:0),1TBDMS,isomer #1CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO[Si](C)(C)C(C)(C)C)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC5995.5Semi standard non polar33892256
GlcCer(d18:1/22:0),1TBDMS,isomer #1CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO[Si](C)(C)C(C)(C)C)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC5536.9Standard non polar33892256
GlcCer(d18:1/22:0),1TBDMS,isomer #1CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO[Si](C)(C)C(C)(C)C)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC7130.3Standard polar33892256
GlcCer(d18:1/22:0),1TBDMS,isomer #2CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O[Si](C)(C)C(C)(C)C)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC5965.5Semi standard non polar33892256
GlcCer(d18:1/22:0),1TBDMS,isomer #2CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O[Si](C)(C)C(C)(C)C)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC5555.1Standard non polar33892256
GlcCer(d18:1/22:0),1TBDMS,isomer #2CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O[Si](C)(C)C(C)(C)C)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC7034.7Standard polar33892256
GlcCer(d18:1/22:0),1TBDMS,isomer #3CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O[Si](C)(C)C(C)(C)C)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC5940.0Semi standard non polar33892256
GlcCer(d18:1/22:0),1TBDMS,isomer #3CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O[Si](C)(C)C(C)(C)C)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC5539.2Standard non polar33892256
GlcCer(d18:1/22:0),1TBDMS,isomer #3CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O[Si](C)(C)C(C)(C)C)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC7029.9Standard polar33892256
GlcCer(d18:1/22:0),1TBDMS,isomer #4CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O[Si](C)(C)C(C)(C)C)NC(=O)CCCCCCCCCCCCCCCCCCCCC5948.2Semi standard non polar33892256
GlcCer(d18:1/22:0),1TBDMS,isomer #4CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O[Si](C)(C)C(C)(C)C)NC(=O)CCCCCCCCCCCCCCCCCCCCC5546.3Standard non polar33892256
GlcCer(d18:1/22:0),1TBDMS,isomer #4CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O[Si](C)(C)C(C)(C)C)NC(=O)CCCCCCCCCCCCCCCCCCCCC7063.8Standard polar33892256
GlcCer(d18:1/22:0),1TBDMS,isomer #5CCCCCCCCCCCCC/C=C/[C@@H](O[Si](C)(C)C(C)(C)C)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC6071.9Semi standard non polar33892256
GlcCer(d18:1/22:0),1TBDMS,isomer #5CCCCCCCCCCCCC/C=C/[C@@H](O[Si](C)(C)C(C)(C)C)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC5421.2Standard non polar33892256
GlcCer(d18:1/22:0),1TBDMS,isomer #5CCCCCCCCCCCCC/C=C/[C@@H](O[Si](C)(C)C(C)(C)C)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCCCCCCCCCC7003.7Standard polar33892256
GlcCer(d18:1/22:0),1TBDMS,isomer #6CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)N(C(=O)CCCCCCCCCCCCCCCCCCCCC)[Si](C)(C)C(C)(C)C5934.6Semi standard non polar33892256
GlcCer(d18:1/22:0),1TBDMS,isomer #6CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)N(C(=O)CCCCCCCCCCCCCCCCCCCCC)[Si](C)(C)C(C)(C)C5487.6Standard non polar33892256
GlcCer(d18:1/22:0),1TBDMS,isomer #6CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O)N(C(=O)CCCCCCCCCCCCCCCCCCCCC)[Si](C)(C)C(C)(C)C7090.5Standard polar33892256
Spectra

MS/MS Spectra

Spectrum TypeDescriptionSplash KeyDeposition DateSourceView
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - GlcCer(d18:1/22:0) 10V, Negative-QTOFsplash10-001i-0000000900-a1cb6bba2527665ea0902021-09-22Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - GlcCer(d18:1/22:0) 20V, Negative-QTOFsplash10-001i-3110003900-66b300b7bd730e8530f42021-09-22Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - GlcCer(d18:1/22:0) 40V, Negative-QTOFsplash10-05ai-9257130000-a2e38c0fba84a5d71df12021-09-22Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - GlcCer(d18:1/22:0) 10V, Positive-QTOFsplash10-001i-4000006900-112b0c40cda1bffd1b762021-09-22Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - GlcCer(d18:1/22:0) 20V, Positive-QTOFsplash10-0ue9-7200119500-41ad69cf04fa013569ef2021-09-22Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - GlcCer(d18:1/22:0) 40V, Positive-QTOFsplash10-000x-9140020000-542d584a3f65b595874a2021-09-22Wishart LabView Spectrum
Biological Properties
Cellular Locations
  • Extracellular
  • Membrane
Biospecimen Locations
  • Feces
Tissue Locations
  • Bone Marrow
  • Brain
  • Liver
  • Neuron
  • Spleen
Pathways
Normal Concentrations
Not Available
Abnormal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
FecesDetected but not QuantifiedNot QuantifiedNewborn (0-30 days old)Not Specified
Premature neonates
details
Associated Disorders and Diseases
Disease ReferencesNone
Associated OMIM IDsNone
DrugBank IDNot Available
Phenol Explorer Compound IDNot Available
FooDB IDFDB023561
KNApSAcK IDNot Available
Chemspider ID8548528
KEGG Compound IDC01190
BioCyc IDGLUCOSYL_CERAMIDE
BiGG IDNot Available
Wikipedia LinkNot Available
METLIN ID7227
PubChem Compound10373084
PDB IDNot Available
ChEBI ID62107
Food Biomarker OntologyNot Available
VMH IDNot Available
MarkerDB IDNot Available
Good Scents IDNot Available
References
Synthesis ReferenceNot Available
Material Safety Data Sheet (MSDS)Not Available
General References
  1. Hara A, Kitazawa N, Taketomi T: Abnormalities of glycosphingolipids in mucopolysaccharidosis type III B. J Lipid Res. 1984 Feb;25(2):175-84. [PubMed:6423755 ]
  2. Beutler E: Gaucher disease. Blood Rev. 1988 Mar;2(1):59-70. [PubMed:3289655 ]
  3. Kaye EM, Ullman MD, Wilson ER, Barranger JA: Type 2 and type 3 Gaucher disease: a morphological and biochemical study. Ann Neurol. 1986 Aug;20(2):223-30. [PubMed:3752966 ]
  4. Conradi NG, Kalimo H, Sourander P: Reactions of vessel walls and brain parenchyma to the accumulation of Gaucher cells in the Norrbottnian type (type III) of Gaucher disease. Acta Neuropathol. 1988;75(4):385-90. [PubMed:3364161 ]
  5. Smith RL, Hutchins GM, Sack GH Jr, Ridolfi RL: Unusual cardiac, renal and pulmonary involvement in Gaucher's disease. Intersitial glucocerebroside accumulation, pulmonary hypertension and fatal bone marrow embolization. Am J Med. 1978 Aug;65(2):352-60. [PubMed:686020 ]
  6. Ohashi T: [Gene therapy for Gaucher disease]. Nihon Rinsho. 1995 Dec;53(12):3089-94. [PubMed:8577064 ]
  7. Nishimura RN, Barranger JA: Neurologic complications of Gaucher's disease, type 3. Arch Neurol. 1980 Feb;37(2):92-3. [PubMed:6766716 ]
  8. Eto Y, Ida H: [Molecular studies of Gaucher disease]. Rinsho Byori. 1996 Apr;44(4):327-34. [PubMed:8847814 ]
  9. Naito M, Takahashi K, Hojo H: An ultrastructural and experimental study on the development of tubular structures in the lysosomes of Gaucher cells. Lab Invest. 1988 May;58(5):590-8. [PubMed:3367638 ]
  10. Mariani G, Filocamo M, Giona F, Villa G, Amendola A, Erba P, Buffoni F, Copello F, Pierini A, Minichilli F, Gatti R, Brady RO: Severity of bone marrow involvement in patients with Gaucher's disease evaluated by scintigraphy with 99mTc-sestamibi. J Nucl Med. 2003 Aug;44(8):1253-62. [PubMed:12902415 ]
  11. Soffer D, Yamanaka T, Wenger DA, Suzuki K, Suzuki K: Central nervous system involvement in adult-onset Gaucher's disease. Acta Neuropathol. 1980;49(1):1-6. [PubMed:7355669 ]
  12. Ohashi T: [Gaucher disease]. Nihon Rinsho. 1995 Dec;53(12):2943-6. [PubMed:8577040 ]
  13. Starzl TE, Demetris AJ, Trucco M, Ricordi C, Ildstad S, Terasaki PI, Murase N, Kendall RS, Kocova M, Rudert WA, et al.: Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease. N Engl J Med. 1993 Mar 18;328(11):745-9. [PubMed:8437594 ]
  14. Pilz H, Heipertz R: [Differential diagnosis of congenital lipidoses by lipid analyses of body fluids, biopsy and autopsy tissue]. Fortschr Neurol Psychiatr Grenzgeb. 1975 Nov;43(11):602-17. [PubMed:53174 ]
  15. Nilsson O, Grabowski GA, Ludman MD, Desnick RJ, Svennerholm L: Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants. Clin Genet. 1985 May;27(5):443-50. [PubMed:3924448 ]
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  30. Owada M, Sakiyama T, Kitagawa T: Neuropathic Gaucher's disease with normal 4-methylumbelliferyl-beta-glucosidase activity in the liver. Pediatr Res. 1977 May;11(5):641-6. [PubMed:870871 ]
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Only showing the first 10 proteins. There are 63 proteins in total.

Enzymes

General function:
Involved in galactosylceramidase activity
Specific function:
Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon.
Gene Name:
GALC
Uniprot ID:
P54803
Molecular weight:
77062.86
General function:
Involved in hydrolase activity, hydrolyzing O-glycosyl compounds
Specific function:
LPH splits lactose in the small intestine.
Gene Name:
LCT
Uniprot ID:
P09848
Molecular weight:
218584.77
General function:
Involved in transferase activity, transferring hexosyl groups
Specific function:
Catalyzes the formation of some glycolipid via the addition of N-acetylgalactosamine (GalNAc) in alpha-1,3-linkage to some substrate. Glycolipids probably serve for adherence of some pathogens
Gene Name:
GBGT1
Uniprot ID:
Q8N5D6
Molecular weight:
40126.9
General function:
Involved in N-acetylglucosaminylphosphatidylinositol de
Specific function:
Involved in the second step of GPI biosynthesis. De-N-acetylation of N-acetylglucosaminyl-phosphatidylinositol.
Gene Name:
PIGL
Uniprot ID:
Q9Y2B2
Molecular weight:
28530.965
General function:
Involved in hydrolase activity
Specific function:
Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. Isoform 2 and isoform 3 have lost catalytic activity.
Gene Name:
SMPD1
Uniprot ID:
P17405
Molecular weight:
69935.53
General function:
Involved in hydrolase activity, hydrolyzing O-glycosyl compounds
Specific function:
Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans. Isoform 2 has no beta-galactosidase catalytic activity, but plays functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to the elastin-binding protein (EBP), a major component of the non-integrin cell surface receptor expressed on fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. In elastin producing cells, associates with tropoelastin intracellularly and functions as a recycling molecular chaperone which facilitates the secretions of tropoelastin and its assembly into elastic fibers.
Gene Name:
GLB1
Uniprot ID:
P16278
Molecular weight:
Not Available
General function:
Cell wall/membrane/envelope biogenesis
Specific function:
Catalyzes the first glycosylation step in glycosphingolipid biosynthesis, the transfer of glucose to ceramide. May also serve as a "flippase".
Gene Name:
UGCG
Uniprot ID:
Q16739
Molecular weight:
44853.255
General function:
Involved in phosphatidylinositol N-acetylglucosaminyltransferase activity
Specific function:
Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.
Gene Name:
PIGQ
Uniprot ID:
Q9BRB3
Molecular weight:
65343.25
General function:
Involved in biosynthetic process
Specific function:
Necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis.
Gene Name:
PIGA
Uniprot ID:
P37287
Molecular weight:
54126.065
General function:
Involved in phosphatidylinositol N-acetylglucosaminyltr
Specific function:
Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.
Gene Name:
PIGH
Uniprot ID:
Q14442
Molecular weight:
21080.415

Only showing the first 10 proteins. There are 63 proteins in total.