Query author contributions in Reactome
Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.
If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.
Details on Person The family of beta 4-galactosyltransferases (B4GALTs) is com...
| Class:Id | Summation:3656433 |
|---|---|
| _displayName | The family of beta 4-galactosyltransferases (B4GALTs) is com... |
| _timestamp | 2014-10-31 11:13:40 |
| created | [InstanceEdit:3656412] Jassal, B, 2013-06-05 |
| modified | [InstanceEdit:4006087] Jassal, B, 2013-07-26 [InstanceEdit:4793951] Jassal, B, 2013-10-29 [InstanceEdit:4839807] Jassal, B, 2013-11-04 [InstanceEdit:5607074] Jassal, Bijay, 2014-07-10 [InstanceEdit:5633234] Jassal, Bijay, 2014-10-31 |
| text | The family of beta 4-galactosyltransferases (B4GALTs) is composed by at least six known members that mediate the transfer of galactose to N-glycan structures and either to begin or elongate keratan chains. Defective B4GALT1 is associated with congenital disorder of glycosylation type IId (B4GALT1-CDG, CDG-2d; MIM:607091), in which clinical symptoms are dominated by dysmorphic features, psychomotor and mental retardation, hypotonia, as well as blood coagulation abnormalities (Hansske et al. 2002). The mutant R345Kfs*6 results in a truncated, inactive polypeptide. Analysis of oligosaccharides from serum transferrin from these patients reveals loss of sialic acid and galactose residues (Hansske et al. 2002). |
| (summation) | [FailedReaction:3656230] Defective B4GALT1 does not transfer Gal to the keratan chain [Homo sapiens] [FailedReaction:4793956] Defective B4GALT1 does not add Gal to N-glycan [Homo sapiens] [FailedReaction:9035949] Defective B4GALT1 does not transfer Gal to the N-glycan precursor [Homo sapiens] [FailedReaction:9035950] Defective B4GALT1 does not transfer Gal to a branch of keratan [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by The family of beta 4-galactosyltransferases (B4GALTs) is com... (3656433)
