Terminology Service for NFDI4Health

Abnormal isoelectric focusing of serum transferrin

Go to external page http://purl.obolibrary.org/obo/HP_0003160


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

Label

Abnormal isoelectric focusing of serum transferrin

Synonyms
  • Abnormal isoelectric focusing of serum transferrin
  • Abnormal transferrin isoelectric focusing
database cross reference
comment

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

has obo namespace

human_phenotype

id

HP:0003160

Term relations