Pathways > Diseases of glycosylation
Page last updated: 2024-10-06

Diseases of glycosylation

Proteins (22)

ProteinSynonymsTaxonomy
Lysosomal protective proteinEC 3.4.16.5; Carboxypeptidase C; Carboxypeptidase L; Cathepsin A; Protective protein cathepsin A; PPCA; Protective protein for beta-galactosidaseHomo sapiens (human)
Beta-galactosidaseEC 3.2.1.23; Acid beta-galactosidase; Lactase; Elastin receptor 1Homo sapiens (human)
Beta-hexosaminidase subunit alphaEC 3.2.1.52; Beta-N-acetylhexosaminidase subunit alpha; Hexosaminidase subunit A; N-acetyl-beta-glucosaminidase subunit alphaHomo sapiens (human)
DystroglycanDystrophin-associated glycoprotein 1Homo sapiens (human)
UDP-glucose 4-epimeraseEC 5.1.3.2; Galactowaldenase; UDP-N-acetylgalactosamine 4-epimerase; UDP-GalNAc 4-epimerase; UDP-N-acetylglucosamine 4-epimerase; UDP-GlcNAc 4-epimerase; 5.1.3.7; UDP-galactose 4-epimeraseHomo sapiens (human)
Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1EC 2.4.1.122; B3Gal-T8; Core 1 O-glycan T-synthase; Core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1; Beta-1,3-galactosyltransferase; Core 1 beta1,3-galactosyltransferase 1; C1GalT1; Core 1 beta3-Gal-T1Homo sapiens (human)
Beta-1,4-glucuronyltransferase 1EC 2.4.1.-; I-beta-1,3-N-acetylglucosaminyltransferase; iGnT; N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase; Poly-N-acetyllactosamine extension enzyme; UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1Homo sapiens (human)
Dehydrodolichyl diphosphate synthase complex subunit NUS1EC 2.5.1.87; Cis-prenyltransferase subunit NgBR; Nogo-B receptor; NgBR; Nuclear undecaprenyl pyrophosphate synthase 1 homologHomo sapiens (human)
Beta-1,4-galactosyltransferase 1Beta-1,4-GalTase 1; Beta4Gal-T1; b4Gal-T1; EC 2.4.1.-; Beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase; Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase; 2.4.1.38; Lactose synthase A protein; 2.4.1.22; N-acetyllactoHomo sapiens (human)
Dehydrodolichyl diphosphate synthase complex subunit DHDDSEC 2.5.1.87; Cis-isoprenyltransferase; CIT; Cis-IPTase; Cis-prenyltransferase subunit hCIT; Epididymis tissue protein Li 189mHomo sapiens (human)
Exostosin-2EC 2.4.1.224; EC 2.4.1.225; Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Multiple exostoses protein 2; Putative tumor suppressor protein EXT2Homo sapiens (human)
Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3EC 2.4.1.135; Beta-1,3-glucuronyltransferase 3; Glucuronosyltransferase I; GlcAT-I; UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase; GlcUAT-IHomo sapiens (human)
Exostosin-1EC 2.4.1.224; EC 2.4.1.225; Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Multiple exostoses protein 1; Putative tumor suppressor protein EXT1Homo sapiens (human)
Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13EC 2.4.1.141; EC 3.4.19.12; Asparagine-linked glycosylation 13 homolog; Glycosyltransferase 28 domain-containing protein 1; UDP-N-acetylglucosamine transferase subunit ALG13 homologHomo sapiens (human)
Protein O-mannosyl-transferase 2EC 2.4.1.109; Dolichyl-phosphate-mannose--protein mannosyltransferase 2Homo sapiens (human)
Protein O-mannosyl-transferase 1EC 2.4.1.109; Dolichyl-phosphate-mannose--protein mannosyltransferase 1Homo sapiens (human)
Beta-1,3-N-acetylglucosaminyltransferase lunatic fringeEC 2.4.1.222; O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferaseHomo sapiens (human)
Dolichol-phosphate mannosyltransferase subunit 1EC 2.4.1.83; Dolichol-phosphate mannose synthase subunit 1; DPM synthase subunit 1; Dolichyl-phosphate beta-D-mannosyltransferase subunit 1; Mannose-P-dolichol synthase subunit 1; MPD synthase subunit 1Homo sapiens (human)
Dolichol phosphate-mannose biosynthesis regulatory proteinDolichol-phosphate mannose synthase subunit 2; DPM synthase subunit 2Homo sapiens (human)
Beta-1,3-glucosyltransferaseBeta3Glc-T; EC 2.4.1.-; Beta 3-glucosyltransferase; Beta-3-glycosyltransferase-likeHomo sapiens (human)
Protein RFT1 homologHomo sapiens (human)
Dolichol-phosphate mannosyltransferase subunit 3Dolichol-phosphate mannose synthase subunit 3; DPM synthase subunit 3; Dolichyl-phosphate beta-D-mannosyltransferase subunit 3; Mannose-P-dolichol synthase subunit 3; MPD synthase subunit 3; Prostin-1Homo sapiens (human)

Compounds (18)

CompoundDescription
hydronium ion
ManganeseA trace element with atomic symbol Mn, atomic number 25, and atomic weight 54.94. It is concentrated in cell mitochondria, mostly in the pituitary gland, liver, pancreas, kidney, and bone, influences the synthesis of mucopolysaccharides, stimulates hepatic synthesis of cholesterol and fatty acids, and is a cofactor in many enzymes, including arginase and alkaline phosphatase in the liver. (From AMA Drug Evaluations Annual 1992, p2035)
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.
MagnesiumA metallic element that has the atomic symbol Mg, atomic number 12, and atomic weight 24.31. It is important for the activity of many enzymes, especially those involved in OXIDATIVE PHOSPHORYLATION.
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)
isopentenyl pyrophosphatesubstrate for isopentenyl pyrophosphate isomerase; RN given refers to unlabeled cpd; a nonpeptide mycobacterial antigen that stimulates gamma delta T cells
galactose-1-phosphate
nadA coenzyme composed of ribosylnicotinamide 5'-diphosphate coupled to adenosine 5'-phosphate by pyrophosphate linkage. It is found widely in nature and is involved in numerous enzymatic reactions in which it serves as an electron carrier by being alternately oxidized (NAD+) and reduced (NADH). (Dorland, 27th ed)
NADPNicotinamide adenine dinucleotide phosphate. A coenzyme composed of ribosylnicotinamide 5'-phosphate (NMN) coupled by pyrophosphate linkage to the 5'-phosphate adenosine 2',5'-bisphosphate. It serves as an electron carrier in a number of reactions, being alternately oxidized (NADP+) and reduced (NADPH). (Dorland, 27th ed)
farnesyl pyrophosphatea sesquiterpene that dimerizes to SQUALENE; RN given refers to cpd without isomeric designation
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.
polyglutamineRN given for (D)-isomer
Cytidine TriphosphateCytidine 5'-(tetrahydrogen triphosphate). A cytosine nucleotide containing three phosphate groups esterified to the sugar moiety.
dolichol pyrophosphate
dolichol monophosphate
uridine diphosphate n-acetylgalactosamineA nucleoside diphosphate sugar which serves as a source of N-acetylgalactosamine for glycoproteins, sulfatides and cerebrosides.
Adenosine Phosphosulfate5'-Adenylic acid, monoanhydride with sulfuric acid. The initial compound formed by the action of ATP sulfurylase on sulfate ions after sulfate uptake. Synonyms: adenosine sulfatophosphate; APS.
N-acetylmannosamineRN given refers to cpd without isomeric designation
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