Literature associating POMGNT1 and retinitis pigmentosa 72
UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2; Participates in O-mannosyl glycosylation. May be responsible for the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O- Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity; Belongs to the glycosyltransferase 13 family.
Synonyms: POMGNT1, POMGNT1p, hPOMGNT1, DKFZP761B182, DKFZP761B182-001 ...