MGAT5B
Description
The MGAT5B (alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B) is a protein-coding gene located on chromosome 17.
MGAT5B is a gene that encodes the enzyme alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B in humans.
MGAT5B is a glycosyltransferase that acts on alpha-linked mannose residues in both N-glycans and O-mannosyl glycans. It catalyzes the transfer of N-acetylglucosamine (GlcNAc) to the beta 1-6 linkage of the mannose residue in GlcNAc-beta1,2-Man-alpha, present on both the alpha1,3- and alpha1,6-linked mannose arms of the core N-glycan structure. Additionally, MGAT5B acts on the GlcNAc-beta1,2-Man-alpha1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycans. This enzyme plays a key role in regulating integrin and laminin-dependent adhesion and migration of neuronal cells through its activity in the O-mannosyl glycan pathway.
MGAT5B is also known as GnT-IX, GnT-VB.
Associated Diseases
- severe combined immunodeficiency due to CTPS1 deficiency
- immunodeficiency 18
- agammaglobulinemia 10, autosomal dominant
- immunodeficiency 62
- immunodeficiency 105
- combined immunodeficiency with skin granulomas
- hyper-IgM syndrome type 3
- common variable immunodeficiency
- immunodeficiency, common variable, 14
- immunodeficiency 98 with autoinflammation, X-linked
- cancer
