GCNT3
Description
The GCNT3 (glucosaminyl (N-acetyl) transferase 3, mucin type) is a protein-coding gene located on chromosome 15.
GCNT3 is a glycosyltransferase that plays a critical role in the biosynthesis of mucin-type O-glycans. It synthesizes all known mucin beta 6 N-acetylglucosaminides, mediating the branching of core 2 and core 4 O-glycans. These branching events are essential for the proper formation of mucin-type glycoproteins. GCNT3 also exhibits I-branching enzyme activity, converting linear poly-N-acetyllactosaminoglycans into branched structures. This activity is crucial for the introduction of the blood group I antigen during embryonic development.
GCNT3 is also known as C2/4GnT, C24GNT, C2GNT2, C2GNTM, GNTM.
Associated Diseases
- isolated agammaglobulinemia
- severe combined immunodeficiency due to CARD11 deficiency
- hyper-IgM syndrome type 2
- immunodeficiency, common variable, 14
- IgAD1
- autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- inborn error of immunity
- immune deficiency, familial variable
- immunodeficiency 70
- immunodeficiency 37
- immunodeficiency due to MASP-2 deficiency
