Literature associating POMGNT1 and rigid spine muscular dystrophy 1
POMGNT1 [ENSP00000361060]
Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1; Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins . Catalyzes the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha- dystroglycan and other O-mannosylated proteins, providing the necessary basis for the addition of further carbohydrate moieties . Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity. ECO:0000269|PubMed:26908613, ECO:0000269|PubMed:27391550,
Synonyms: POMGNT1, POMGNT1p, hPOMGNT1, Q68CV6, Q8WZA1 ...