Pathways > Gaucher Disease
Page last updated: 2024-10-06

Gaucher Disease

Proteins (23)

ProteinSynonymsTaxonomy
Arylsulfatase AASA; EC 3.1.6.8; Cerebroside-sulfataseHomo sapiens (human)
Lysosomal acid glucosylceramidaseLysosomal acid GCase; EC 3.2.1.45; Acid beta-glucosidase; Alglucerase; Beta-glucocerebrosidase; Beta-GC; Cholesterol glucosyltransferase; SGTase; 2.4.1.-; Cholesteryl-beta-glucosidase; 3.2.1.-; D-glucosyl-N-acylsphingosine glucohydrolase; ImigluceraseHomo sapiens (human)
Beta-galactosidaseEC 3.2.1.23; Acid beta-galactosidase; Lactase; Elastin receptor 1Homo sapiens (human)
2-hydroxyacylsphingosine 1-beta-galactosyltransferaseEC 2.4.1.47; Ceramide UDP-galactosyltransferase; Cerebroside synthase; UDP-galactose-ceramide galactosyltransferaseHomo sapiens (human)
Serine palmitoyltransferase 1EC 2.3.1.50; Long chain base biosynthesis protein 1; LCB 1; Serine-palmitoyl-CoA transferase 1; SPT 1; SPT1Homo sapiens (human)
Serine palmitoyltransferase 2EC 2.3.1.50; Long chain base biosynthesis protein 2; LCB 2; Long chain base biosynthesis protein 2a; LCB2a; Serine-palmitoyl-CoA transferase 2; SPT 2Homo sapiens (human)
Ceramide kinasehCERK; EC 2.7.1.138; Acylsphingosine kinase; Lipid kinase 4; LK4Homo sapiens (human)
Alpha-galactosidase AEC 3.2.1.22; Alpha-D-galactosidase A; Alpha-D-galactoside galactohydrolase; Galactosylgalactosylglucosylceramidase GLA; 3.2.1.47; MelibiaseHomo sapiens (human)
Sialidase-3EC 3.2.1.18; Ganglioside sialidasedis; Membrane sialidase; N-acetyl-alpha-neuraminidase 3Homo sapiens (human)
Ceramide glucosyltransferaseEC 2.4.1.80; GLCT-1; Glucosylceramide synthase; GCS; UDP-glucose ceramide glucosyltransferase; UDP-glucose:N-acylsphingosine D-glucosyltransferaseHomo sapiens (human)
Sphingosine kinase 2SK 2; SPK 2; EC 2.7.1.91Homo sapiens (human)
Sphingosine-1-phosphate lyase 1S1PL; SP-lyase 1; SPL 1; hSPL; EC 4.1.2.27; Sphingosine-1-phosphate aldolaseHomo sapiens (human)
Sphingosine-1-phosphate phosphatase 2SPPase2; Spp2; hSPP2; EC 3.1.3.-; Sphingosine-1-phosphatase 2Homo sapiens (human)
3-ketodihydrosphingosine reductaseKDS reductase; EC 1.1.1.102; 3-dehydrosphinganine reductase; Follicular variant translocation protein 1; FVT-1; Short chain dehydrogenase/reductase family 35C member 1Homo sapiens (human)
Alkaline ceramidase 1AlkCDase 1; Alkaline CDase 1; EC 3.5.1.-; EC 3.5.1.23; Acylsphingosine deacylase 3; N-acylsphingosine amidohydrolase 3Homo sapiens (human)
Phosphatidylcholine:ceramide cholinephosphotransferase 1 EC 2.7.8.27; Medulla oblongata-derived protein; Protein Mob; Sphingomyelin synthase 1; Transmembrane protein 23Homo sapiens (human)
Ectonucleotide pyrophosphatase/phosphodiesterase family member 7E-NPP 7; NPP-7; EC 3.1.4.12; Alkaline sphingomyelin phosphodiesterase; Intestinal alkaline sphingomyelinase; Alk-SMaseHomo sapiens (human)
GalactocerebrosidaseGALCERase; EC 3.2.1.46; Galactocerebroside beta-galactosidase; Galactosylceramidase; Galactosylceramide beta-galactosidaseHomo sapiens (human)
Galactosylceramide sulfotransferaseGalCer sulfotransferase; EC 2.8.2.11; 3'-phosphoadenosine-5'-phosphosulfate:GalCer sulfotransferase; 3'-phosphoadenylylsulfate:galactosylceramide 3'-sulfotransferase; Cerebroside sulfotransferaseHomo sapiens (human)
Phospholipid phosphatase 1EC 3.1.3.-; EC 3.1.3.106; EC 3.1.3.4; EC 3.1.3.81; Lipid phosphate phosphohydrolase 1; PAP2-alpha; Phosphatidate phosphohydrolase type 2a; Phosphatidic acid phosphatase 2a; PAP-2a; PAP2aHomo sapiens (human)
Sphingolipid delta(4)-desaturase/C4-monooxygenase DES2EC 1.14.18.5; EC 1.14.19.17; Degenerative spermatocyte homolog 2; Sphingolipid 4-desaturase; Sphingolipid C4-monooxygenaseHomo sapiens (human)
Alkaline ceramidase 3AlkCDase 3; Alkaline CDase 3; EC 3.5.1.-; EC 3.5.1.23; Alkaline dihydroceramidase SB89; Alkaline phytoceramidase; aPHCHomo sapiens (human)
Beta-1,4-galactosyltransferase 6Beta-1,4-GalTase 6; Beta4Gal-T6; b4Gal-T6; EC 2.4.1.-; Glucosylceramide beta-1,4-galactosyltransferase; 2.4.1.274; Lactosylceramide synthase; LacCer synthase; UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 6; UDP-Gal:glucosylceramide beta-1,4-galactosHomo sapiens (human)

Compounds (24)

CompoundDescription
phosphorylcholineCalcium and magnesium salts used therapeutically in hepatobiliary dysfunction.
Orthophosphate
Carbon DioxideA colorless, odorless gas that can be formed by the body and is necessary for the respiration cycle of plants and animals.
galactoseAn aldohexose that occurs naturally in the D-form in lactose, cerebrosides, gangliosides, and mucoproteins. Deficiency of galactosyl-1-phosphate uridyltransferase (GALACTOSE-1-PHOSPHATE URIDYL-TRANSFERASE DEFICIENCY DISEASE) causes an error in galactose metabolism called GALACTOSEMIA, resulting in elevations of galactose in the blood.
GlucoseA primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement.
Adenosine TriphosphateAn adenine nucleotide containing three phosphate groups esterified to the sugar moiety. In addition to its crucial roles in metabolism adenosine triphosphate is a neurotransmitter.
adenosine diphosphateAdenosine 5'-(trihydrogen diphosphate). An adenine nucleotide containing two phosphate groups esterified to the sugar moiety at the 5'-position.
uridine diphosphateA uracil nucleotide containing a pyrophosphate group esterified to C5 of the sugar moiety.
WaterA clear, odorless, tasteless liquid that is essential for most animal and plant life and is an excellent solvent for many substances. The chemical formula is hydrogen oxide (H2O). (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
Palmitoyl Coenzyme AA fatty acid coenzyme derivative which plays a key role in fatty acid oxidation and biosynthesis.
phosphorylethanolamineRN given refers to parent cpd; structure
adenosine 3'-phosphate-5'-phosphate
ketodihydrosphingosineRN given refers to cpd without isomeric designation
sphingosine 1-phosphateRN given refers to (R-(R*,S*-(E)))-isomer; RN for cpd without isomeric designation not available 8/89
ceramide 1-phosphate
erythro-(2R,3S)-sphingosinestructure in first source
serineA non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
hexadecanal
phosphoadenosine phosphosulfate3'-Phosphoadenosine-5'-phosphosulfate. Key intermediate in the formation by living cells of sulfate esters of phenols, alcohols, steroids, sulfated polysaccharides, and simple esters, such as choline sulfate. It is formed from sulfate ion and ATP in a two-step process. This compound also is an important step in the process of sulfur fixation in plants and microorganisms.
PhosphatidylcholinesDerivatives of PHOSPHATIDIC ACIDS in which the phosphoric acid is bound in ester linkage to a CHOLINE moiety.
creolinfrom refined coal tar oils
dihydrosphingosine 1-phosphateRN given refers to (R-(R*,S*))-isomer
mephentermineA sympathomimetic agent with specificity for alpha-1 adrenergic receptors. It is used to maintain BLOOD PRESSURE in hypotensive states such as following SPINAL ANESTHESIA.
dihydroceramidelacks the 4-5 trans double bond of the sphingosine moiety of ceramides; structure in first source
chemdatabank.com