Disease-gene associations mined from literature

Literature associating POMGNT1 and congenital muscular dystrophy-dystroglycanopathy type A1

POMGNT1 [ENSP00000361060]

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 ...

Linkouts:  STRING  Pharos  UniProt