Carbohydrate-Deficient Glycoprotein Syndrome, Type II

Taxonomy

• Homo sapiens (Human)

Protein

• Serotransferrin / Homo sapiens    P02787

Source

• Blood Serum (UBERON_0001977)  

Reported structure

• N-Linked / Complex / NeuAc(?2-?)Gal(?1-?)GlcNAc(?1-?)Man(a1-3)[Man(a1-6)]Man(b1-4)GlcNAc(b1-4)GlcNAc

Composition

• Hex:4 HexNAc:3 NeuAc:1 (avg mass : 1567.4278 )

Disease

• Carbohydrate-Deficient Glycoprotein Syndrome, Type II (DOID:5212)

Reference

• Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II. (1994 - Jaeken J, Schachter H, Carchon H, De Cock P, Coddeville B, Spik G) / Status : Reviewed

Reported glycosite

• Serotransferrin / Homo sapiens
  •        Undefined site

Mass spectrometry observed peptide