DISEASES

Disease-gene associations mined from literature

Literature associating PGM3 and immunodeficiency 11B

PGM3 [ENSP00000425809]

N-acetylglucosamine-phosphate mutase; Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O-glycosylation.

Synonyms:  PGM3,  PGM3p,  hPGM3,  D6RC77,  D6RCD1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM