Defective B3GAT3 does not transfer GlcA to tetrasaccharide linker

Stable Identifier
Reaction [transition]
Homo sapiens
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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

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

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

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

J Biol Chem 2000
Catalyst Activity

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

Normal reaction
Functional status

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

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
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