Abnormal isoelectric focusing of serum transferrin

Abnormal transferrin isoelectric focusing

Abnormal isoelectric focusing of transferrin

Human serum transferrin has two N-glycosylation sites, which are normally both fully occupied by disialylated biantennary glycans to generate tetrasialotransferrin. 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://purl.obolibrary.org/obo/HP_0003160

Human serum transferrin has two N-glycosylation sites, which are normally both fully occupied by disialylated biantennary glycans to generate tetrasialotransferrin.

UMLS:C2749688

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.

Abnormal transferrin isoelectric focusing

Abnormal isoelectric focusing of transferrin

human_phenotype

HP:0003160

Abnormal isoelectric focusing of serum transferrin

HP:0003160

Abnormal isoelectric focusing of serum transferrin

http://purl.obolibrary.org/obo/HP_0012347

http://purl.obolibrary.org/obo/HP_0012347