Query author contributions in Reactome
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Details on Person B3GAT3 (Ouzzine et al. 2000), along with B3GAT1 and 2, trans...
| Class:Id | Summation:3621743 |
|---|---|
| _displayName | B3GAT3 (Ouzzine et al. 2000), along with B3GAT1 and 2, trans... |
| _timestamp | 2014-07-11 09:51:52 |
| created | [InstanceEdit:3621807] Jassal, B, 2013-05-24 |
| modified | [InstanceEdit:3656245] Jassal, B, 2013-05-31 [InstanceEdit:4006087] Jassal, B, 2013-07-26 [InstanceEdit:5607512] Jassal, Bijay, 2014-07-11 |
| text | 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). |
| (summation) | [FailedReaction:3560802] Defective B3GAT3 does not transfer GlcA to tetrasaccharide linker [Homo sapiens] |
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No pathways have been reviewed or authored by B3GAT3 (Ouzzine et al. 2000), along with B3GAT1 and 2, trans... (3621743)
