Defective B3GAT3 does not transfer GlcA to tetrasaccharide linker

Stable Identifier
R-HSA-3560802
Type
Reaction [transition]
Species
Homo sapiens
Compartment
Golgi membrane, Golgi lumen
ReviewStatus
5/5
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Defective B3GAT3 does not transfer GlcA to tetrasaccharide linker
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B3GAT3 (Ouzzine et al. 2000), along with B3GAT1 and 2, transfers a glucuronate (GlcA) residue via a beta1,3-linkage to a terminal galactose to complete the tetrasaccharide linker sequence. The B3GAT3 mutant R277Q causes almost complete loss of activity (3-5% of wt) and results in the production of immature and lower numbers of dermatan sulfate (DS) and chondroitin sulfate (CS) chains (Baasanjav et al. 2011). This defect causes multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD; MIM:245600).
Literature References
PubMed ID Title Journal Year
21763480 Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

Baasanjav, S, Al-Gazali, L, Hashiguchi, T, Mizumoto, S, Fischer, B, Horn, D, Seelow, D, Ali, BR, Aziz, SA, Langer, R, Saleh, AA, Becker, C, Nürnberg, G, Cantagrel, V, Gleeson, JG, Gomez, D, Michel, JB, Stricker, S, Lindner, TH, Nürnberg, P, Sugahara, K, Mundlos, S, Hoffmann, K

Am. J. Hum. Genet. 2011
10842173 Structure/function of the human Ga1beta1,3-glucuronosyltransferase. Dimerization and functional activity are mediated by two crucial cysteine residues

Ouzzine, M, Gulberti, S, Netter, P, Magdalou, J, Fournel-Gigleux, S

J Biol Chem 2000
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as an event of
Catalyst Activity

galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity of B3GAT3 R277Q:Mn2+ dimer [Golgi membrane]

Physical Entity
B3GAT3 R277Q:Mn2+ dimer [Golgi membrane] (Homo sapiens)
Activity
galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)
Normal reaction
B3GAT dimers transfer GlcA to tetrasaccharide linker (Homo sapiens)
Functional status

Loss of function of B3GAT3 R277Q:Mn2+ dimer [Golgi membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
Larsen syndrome DOID:14764 dominant larsen syndrome
congenital heart defect DOID:1682 Congenital anomaly of heart, Congenital Heart Defects, heart defect, Heart Malformation
Cross References
Mondo
Authored
Jassal, B  (2013-05-21)
Reviewed
Spillmann, D  (2014-07-09)
Created
Jassal, B  (2013-05-21)
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