Diseases associated with glycosaminoglycan metabolism

Stable Identifier
R-HSA-3560782
Type
Pathway
Species
Homo sapiens
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A number of genetic disorders are caused by mutations in the genes encoding glycosyltransferases and sulfotransferases, enzymes responsible for the synthesis of glycosaminoglycans (GAGs) as well as hexosaminidase degradation of GAGs (Mizumoto et al. 2013).

Literature References
PubMed ID Title Journal Year
23457301 Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans

Mizumoto, S, Ikegawa, S, Sugahara, K

J. Biol. Chem. 2013
Participants
Participant Of
Disease
Name Identifier Synonyms
congenital disorder of glycosylation 5212 carbohydrate-deficient glycoprotein syndrome
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