Abnormal protein N-linked glycosylation

An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein. Essentially, all proteins (except albumin) that travel through the ER-Golgi network undergo N-linked glycosylation. Glycans promote protein folding, stability, trafficking, localisation, and oligomerisation. They play vital parts in cell-cell interactions and intracellular signalling.

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

Essentially, all proteins (except albumin) that travel through the ER-Golgi network undergo N-linked glycosylation. Glycans promote protein folding, stability, trafficking, localisation, and oligomerisation. They play vital parts in cell-cell interactions and intracellular signalling.

2013-09-15T09:29:59Z

https://orcid.org/0000-0002-0736-9199

UMLS:C4022944

An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein.

human_phenotype

HP:0012347

Abnormal protein N-linked glycosylation

HP:0012347

Abnormal protein N-linked glycosylation

http://purl.obolibrary.org/obo/HP_0012346

http://purl.obolibrary.org/obo/HP_0012346