Abnormal isoelectric focusing of serum transferrin
Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded. [ http://www.ncbi.nlm.nih.gov/pubmed/22516080 ]
Term info
Abnormal isoelectric focusing of serum transferrin
- Abnormal isoelectric focusing of serum transferrin
- Abnormal transferrin isoelectric focusing
Human serum transferrin has two N-glycosylation sites, which are normally both fully occupied by disialylated biantennary glycans to generate tetrasialotransferrin.
human_phenotype
HP:0003160