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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 IDHMDB0004978
Secondary Accession Numbers
  • HMDB04978
Metabolite Identification
Common NameGlcCer(d18:1/24:0)
DescriptionGlcCer(d18:1/24:0), also known as cerebroside (CB), glycosphingolipid or glycoceramide, is a glucosylceramide (GlcCer). Glucosylceramides are members of the class of compounds known as sphingolipids (SPs), or glycosylceramides. SPs are lipids containing a backbone of sphingoid bases (e.g. sphingosine or sphinganine) that are often covalently bound to a fatty acid derivative through N-acylation. SPs are found in cell membranes, particularly in peripheral nerve cells and the cells found in the central nervous system (including the brain and spinal cord). Sphingolipids are extremely versatile molecules that have functions controlling fundamental cellular processes such as cell division, differentiation, and cell death. Impairments associated with sphingolipid metabolism are associated with many common human diseases such as diabetes, various cancers, microbial infections, diseases of the cardiovascular and respiratory systems, Alzheimer’s disease and other neurological syndromes. The biosynthesis and catabolism of sphingolipids involves a large number of intermediate metabolites where many different enzymes are involved. Simple sphingolipids, which include the sphingoid bases and ceramides, make up the early products of the sphingolipid synthetic pathways, while complex sphingolipids may be formed by the addition of head groups to the ceramide template (Wikipedia). Cerebroside is the common name for monoglycosylceramides which are important components in animal muscle and nerve cell membranes. In terms of their chemical structure, GlcCers can either be glycosphingolipids (ceramide and oligosaccharide) or oligoglycosylceramides with one or more sialic acids (i.e. n-acetylneuraminic acid) linked on the sugar chain. GlcCers are important components of the cell plasma membrane, which modulates cell signal transduction events. Gangliosides have been found to be very important in immunology. Gangliosides can amount to 6% of the weight of lipids from brain, but they are found at lower levels in other animal tissues. There are four types of glycosphingolipids, the cerebrosides, sulfatides, globosides and gangliosides. CBs consist of a ceramide with a single sugar residue which could be either glucose or galactose; the two major types are therefore called glucocerebrosides (glucosylceramides; containing glucose) and galactocerebrosides (galactosylceramides; containing galactose). Galactocerebrosides are the most common and are typically found in neuronal cell membrane, while glucocerebrosides are the least common and are found in other tissues such as the spleen and erythrocytes. Glucocerebrosides are not normally found in cell membranes. Instead, they are typically intermediates in the synthesis or degradation of more complex glycosphingolipids. In humans, glucosylceramide is produced by the enzyme ceramide glucosyltransferase from a ceramide or by the enzyme beta-galactosidase from a lactosylceramides (LacCer). The latter could also be produced from glucosylceramides by the enzyme beta-1,4-galactosyltransferase 6. Glucosylceramide could be hydrolyzed by the enzyme glucosylceramidase to produce a ceramide. Galactosylceramide on the other hand could undergo sulfoglycolipid biosynthesis to produce a sulfatide which in turn can be catalyzed by the enzyme arylsulfatase A to generate a galactosylceramide. Galactosylceramide could also be hydrolyzed to produce a ceramide by the enzyme galactosylceramidase. Other sources for galactosylceramide are ganglioside and digalactosylceramide, which are processed by the enzymes sialidase-2/3/4 and alpha-galactosidase respectively. Excess lysosomal accumulation of glucocerebrosides is found in Gaucher disease, which is an inborn error of metabolism. In terms of its appearance and structure, GlcCer(d18:1/24:0) is a colorless solid that consists of an unsaturated 18-carbon sphingoid base with an attached saturated tetracosanoyl fatty acid side chain. In most mammalian SPs, the 18-carbon sphingoid bases are predominant (PMID: 9759481 ).
Structure
Data?1582752337
Synonyms
ValueSource
1-O-b-D-Glucopyranosyl-ceramideHMDB
1-O-beta-delta-Glucopyranosyl-ceramideHMDB
Ganglioside GL1aHMDB
Gaucher cerebrosideHMDB
GLC-beta1->1'cerHMDB
GlcCeramideHMDB
GlucocerebrosideHMDB
GlucosylceramideHMDB
N-(Tetracosanoyl)-1-β-glucosyl-sphing-4-enineMetBuilder
Glucosylceramide(D18:1/24:0)MetBuilder
N-(Tetracosanoyl)-1-β-glucosyl-sphingosineMetBuilder
N-(Tetracosanoyl)-1-β-glucosyl-D-erythro-sphingosineMetBuilder
N-(Tetracosanoyl)-1-β-glucosyl-4-sphingenineMetBuilder
N-(Tetracosanoyl)-1-β-glucosyl-D-sphingosineMetBuilder
N-(Tetracosanoyl)-1-β-glucosyl-sphingenineMetBuilder
N-(Tetracosanoyl)-1-β-glucosyl-erythro-4-sphingenineMetBuilder
Chemical FormulaC48H93NO8
Average Molecular Weight812.2539
Monoisotopic Molecular Weight811.690118957
IUPAC NameN-[(2S,3R,4E)-3-hydroxy-1-{[(2R,5S,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy}octadec-4-en-2-yl]tetracosanamide
Traditional NameC24 GlcCer
CAS Registry NumberNot Available
SMILES
CCCCCCCCCCCCCCCCCCCCCCCC(=O)N[C@@H](CO[C@@H]1O[C@H](CO)[C@@H](O)C(O)C1O)[C@H](O)\C=C\CCCCCCCCCCCCC
InChI Identifier
InChI=1S/C48H93NO8/c1-3-5-7-9-11-13-15-17-18-19-20-21-22-23-24-26-28-30-32-34-36-38-44(52)49-41(40-56-48-47(55)46(54)45(53)43(39-50)57-48)42(51)37-35-33-31-29-27-25-16-14-12-10-8-6-4-2/h35,37,41-43,45-48,50-51,53-55H,3-34,36,38-40H2,1-2H3,(H,49,52)/b37-35+/t41-,42+,43+,45+,46?,47?,48+/m0/s1
InChI KeyPOQRWMRXUOPCLD-AAAFHMTMSA-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 Solubility0.00019 g/LALOGPS
logP9.15ALOGPS
logP12.65ChemAxon
logS-6.6ALOGPS
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 Count41ChemAxon
Refractivity235 m³·mol⁻¹ChemAxon
Polarizability106.01 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
DarkChem[M+H]+305.5831661259
DarkChem[M-H]-297.00731661259
DeepCCS[M+H]+288.5730932474
DeepCCS[M-H]-286.74530932474
DeepCCS[M-2H]-319.98730932474
DeepCCS[M+Na]+294.17630932474
AllCCS[M+H]+303.332859911
AllCCS[M+H-H2O]+303.332859911
AllCCS[M+NH4]+303.332859911
AllCCS[M+Na]+303.332859911
AllCCS[M-H]-291.832859911
AllCCS[M+Na-2H]-296.032859911
AllCCS[M+HCOO]-300.832859911

Predicted Kovats Retention Indices

Derivatized

Derivative Name / StructureSMILESKovats RI ValueColumn TypeReference
GlcCer(d18:1/24:0),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(O)C1O)NC(=O)CCCCCCCCCCCCCCCCCCCCCCC6030.7Semi standard non polar33892256
GlcCer(d18:1/24:0),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(O)C1O)NC(=O)CCCCCCCCCCCCCCCCCCCCCCC5718.8Standard non polar33892256
GlcCer(d18:1/24:0),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(O)C1O)NC(=O)CCCCCCCCCCCCCCCCCCCCCCC7389.7Standard polar33892256
GlcCer(d18:1/24:0),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(O)C1O)NC(=O)CCCCCCCCCCCCCCCCCCCCCCC6087.4Semi standard non polar33892256
GlcCer(d18:1/24:0),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(O)C1O)NC(=O)CCCCCCCCCCCCCCCCCCCCCCC5651.9Standard non polar33892256
GlcCer(d18:1/24:0),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(O)C1O)NC(=O)CCCCCCCCCCCCCCCCCCCCCCC7229.8Standard polar33892256
GlcCer(d18:1/24:0),1TMS,isomer #3CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)C(O[Si](C)(C)C)C1O)NC(=O)CCCCCCCCCCCCCCCCCCCCCCC6060.7Semi standard non polar33892256
GlcCer(d18:1/24:0),1TMS,isomer #3CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)C(O[Si](C)(C)C)C1O)NC(=O)CCCCCCCCCCCCCCCCCCCCCCC5672.9Standard non polar33892256
GlcCer(d18:1/24:0),1TMS,isomer #3CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)C(O[Si](C)(C)C)C1O)NC(=O)CCCCCCCCCCCCCCCCCCCCCCC7299.2Standard polar33892256
GlcCer(d18:1/24:0),1TMS,isomer #4CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)C(O)C1O[Si](C)(C)C)NC(=O)CCCCCCCCCCCCCCCCCCCCCCC6053.0Semi standard non polar33892256
GlcCer(d18:1/24:0),1TMS,isomer #4CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)C(O)C1O[Si](C)(C)C)NC(=O)CCCCCCCCCCCCCCCCCCCCCCC5679.9Standard non polar33892256
GlcCer(d18:1/24:0),1TMS,isomer #4CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)C(O)C1O[Si](C)(C)C)NC(=O)CCCCCCCCCCCCCCCCCCCCCCC7295.1Standard polar33892256
GlcCer(d18:1/24:0),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(O)C1O)NC(=O)CCCCCCCCCCCCCCCCCCCCCCC6148.7Semi standard non polar33892256
GlcCer(d18:1/24:0),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(O)C1O)NC(=O)CCCCCCCCCCCCCCCCCCCCCCC5628.9Standard non polar33892256
GlcCer(d18:1/24:0),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(O)C1O)NC(=O)CCCCCCCCCCCCCCCCCCCCCCC7263.1Standard polar33892256
GlcCer(d18:1/24:0),1TMS,isomer #6CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)C(O)C1O)N(C(=O)CCCCCCCCCCCCCCCCCCCCCCC)[Si](C)(C)C6011.0Semi standard non polar33892256
GlcCer(d18:1/24:0),1TMS,isomer #6CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)C(O)C1O)N(C(=O)CCCCCCCCCCCCCCCCCCCCCCC)[Si](C)(C)C5683.1Standard non polar33892256
GlcCer(d18:1/24:0),1TMS,isomer #6CCCCCCCCCCCCC/C=C/[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O)C(O)C1O)N(C(=O)CCCCCCCCCCCCCCCCCCCCCCC)[Si](C)(C)C7361.6Standard polar33892256
Spectra

MS/MS Spectra

Spectrum TypeDescriptionSplash KeyDeposition DateSourceView
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - GlcCer(d18:1/24:0) 10V, Negative-QTOFsplash10-03di-0000000090-b40370dd4c635c6d1b112021-09-23Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - GlcCer(d18:1/24:0) 20V, Negative-QTOFsplash10-03di-6110103790-59611867e850e6ad0a322021-09-23Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - GlcCer(d18:1/24:0) 40V, Negative-QTOFsplash10-0c00-9242612000-dfabddbafcf3744f9a7c2021-09-23Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - GlcCer(d18:1/24:0) 10V, Positive-QTOFsplash10-03ec-6100009570-b63f4e8802597be9e73d2021-09-24Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - GlcCer(d18:1/24:0) 20V, Positive-QTOFsplash10-01qc-6200109310-652d768095c695956ff82021-09-24Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - GlcCer(d18:1/24:0) 40V, Positive-QTOFsplash10-000x-9141002000-0ca2e30defedc8d5c8722021-09-24Wishart 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 IDFDB023565
KNApSAcK IDNot Available
Chemspider ID4881992
KEGG Compound IDNot Available
BioCyc IDGLUCOSYL_CERAMIDE
BiGG IDNot Available
Wikipedia LinkNot Available
METLIN ID7231
PubChem Compound6321361
PDB IDNot Available
ChEBI IDNot Available
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 ]
  16. Harzer K, Massenkeil G, Frohlich E: Concurrent increase of cholesterol, sphingomyelin and glucosylceramide in the spleen from non-neurologic Niemann-Pick type C patients but also patients possibly affected with other lipid trafficking disorders. FEBS Lett. 2003 Feb 27;537(1-3):177-81. [PubMed:12606053 ]
  17. Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed:178813 ]
  18. Adar T, Ben-Ami R, Elstein D, Zimran A, Berliner S, Yedgar S, Barshtein G: Aggregation of red blood cells in patients with Gaucher disease. Br J Haematol. 2006 Aug;134(4):432-7. Epub 2006 Jul 10. [PubMed:16827817 ]
  19. Dolen EG, Berdon WE, Ruzal-Shapiro C: "Cold bone scans" as a sign of hemorrhagic infarcts of the spine in Gaucher's disease. Pediatr Radiol. 1997 Jun;27(6):514-6. [PubMed:9174023 ]
  20. Daniels LB, Coyle PJ, Glew RH, Radin NS, Labow RS: Brain glucocerebrosidase in Gaucher's disease. Arch Neurol. 1982 Sep;39(9):550-6. [PubMed:6810854 ]
  21. Stirnemann J, Belmatoug N: [Adult Gaucher disease]. Rev Med Interne. 2001 Dec;22 Suppl 3:374s-383s. [PubMed:11794882 ]
  22. Erickson JS, Radin NS: N-hexyl-O-glucosyl sphingosine, an inhibitor of glucosyl ceramide -glucosidase. J Lipid Res. 1973 Mar;14(2):133-7. [PubMed:4698260 ]
  23. Deguchi H, Bouma BN, Middeldorp S, Lee YM, Griffin JH: Decreased plasma sensitivity to activated protein C by oral contraceptives is associated with decreases in plasma glucosylceramide. J Thromb Haemost. 2005 May;3(5):935-8. [PubMed:15869587 ]
  24. Shoenfeld Y, Gallant LA, Shaklai M, Livni E, Djaldetti M, Pinkhas J: Gaucher's disease: a disease with chronic stimulation of the immune system. Arch Pathol Lab Med. 1982 Aug;106(8):388-91. [PubMed:7049116 ]
  25. Ringden O, Groth CG, Erikson A, Granqvist S, Mansson JE, Sparrelid E: Ten years' experience of bone marrow transplantation for Gaucher disease. Transplantation. 1995 Mar 27;59(6):864-70. [PubMed:7701581 ]
  26. Nilsson O, Mansson JE, Hakansson G, Svennerholm L: The occurrence of psychosine and other glycolipids in spleen and liver from the three major types of Gaucher's disease. Biochim Biophys Acta. 1982 Sep 14;712(3):453-63. [PubMed:7126619 ]
  27. Dann K, Althaus C, Kersten A, vom Dahl S, Sundmacher R: [Uveitis masquerade syndrome in Gaucher disease. Causal treatment by alglucerase substitution therapy]. Klin Monbl Augenheilkd. 1998 Dec;213(6):358-61. [PubMed:10048015 ]
  28. Conradi NG, Sourander P, Nilsson O, Svennerholm L, Erikson A: Neuropathology of the Norrbottnian type of Gaucher disease. Morphological and biochemical studies. Acta Neuropathol. 1984;65(2):99-109. [PubMed:6524300 ]
  29. Beutler E: Gaucher disease: new molecular approaches to diagnosis and treatment. Science. 1992 May 8;256(5058):794-9. [PubMed:1589760 ]
  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 ]
  31. Nilsson O, Svennerholm L: Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease. J Neurochem. 1982 Sep;39(3):709-18. [PubMed:7097276 ]
  32. Liu Y, Suzuki K, Reed JD, Grinberg A, Westphal H, Hoffmann A, Doring T, Sandhoff K, Proia RL: Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure. Proc Natl Acad Sci U S A. 1998 Mar 3;95(5):2503-8. [PubMed:9482915 ]
  33. Poll LW, Maas M, Terk MR, Roca-Espiau M, Bembi B, Ciana G, Weinreb NJ: Response of Gaucher bone disease to enzyme replacement therapy. Br J Radiol. 2002;75 Suppl 1:A25-36. [PubMed:12036830 ]
  34. Campbell PE, Harris CM, Harris CM, Sirimanna T, Vellodi A: A model of neuronopathic Gaucher disease. J Inherit Metab Dis. 2003;26(7):629-39. [PubMed:14707511 ]
  35. Schaison G, Caubel I, Belmatoug N, Billette de Villemeur T, Saudubray JM: [French results of enzyme replacement therapy in Gaucher's disease]. Bull Acad Natl Med. 2002;186(5):851-61; discussion 861-3. [PubMed:12412377 ]
  36. Hollak CE, Boot RG, Poorthuis BJ, Aerts JM: [From gene to disease; Gaucher disease]. Ned Tijdschr Geneeskd. 2005 Sep 24;149(39):2163-6. [PubMed:16223076 ]

Only showing the first 10 proteins. There are 61 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 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:
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
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:
PIGP
Uniprot ID:
P57054
Molecular weight:
18089.055
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:
PIGC
Uniprot ID:
Q92535
Molecular weight:
33582.18

Only showing the first 10 proteins. There are 61 proteins in total.