Diseases associated with glycosaminoglycan metabolism

Stable Identifier
R-HSA-3560782
DOI
10.3180/REACT_267707.1
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Diseases associated with glycosaminoglycan metabolism
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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

Sugahara, K, Ikegawa, S, Mizumoto, S

J. Biol. Chem. 2013
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Disease
Name Identifier Synonyms
congenital disorder of glycosylation DOID:5212 carbohydrate-deficient glycoprotein syndrome
Authored
Jassal, B  (2013-05-21)
Reviewed
Spillmann, D  (2014-07-09)
Created
Jassal, B  (2013-05-21)
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