DISEASES

Disease-gene associations mined from literature

Literature associating MGAT5B and Walker-Warburg syndrome

MGAT5B [ENSP00000391227]

Mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B; Glycosyltransferase that acts on alpha-linked mannose of N-glycans and O-mannosyl glycans. Catalyzes the transfer of N- acetylglucosamine (GlcNAc) to the beta 1-6 linkage of the mannose residue of GlcNAcbeta1,2-Manalpha on both the alpha1,3- and alpha1,6-linked mannose arms in the core structure of N-glycan. Also acts on the GlcNAcbeta1,2-Manalpha1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan. Plays an active role in modulating integrin and laminin-dependent adhesion and migration of neuronal cells via its activity in the O-mannosyl glycan pathway; Mannosyl-glycoprotein N-acetylglucosaminyltransferases

Synonyms:  MGAT5B,  MGAT5Bp,  hMGAT5B,  H3BQ65,  H3BR20 ...

Linkouts:  STRING  Pharos  UniProt  OMIM