Aliases for PGM3 Gene
External Ids for PGM3 Gene
Previous GeneCards Identifiers for PGM3 Gene
This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
GeneCards Summary for PGM3 Gene
PGM3 (Phosphoglucomutase 3) is a Protein Coding gene. Diseases associated with PGM3 include Immunodeficiency 23 and Pgm3-Cdg. Among its related pathways are Synthesis of substrates in N-glycan biosythesis and Transport to the Golgi and subsequent modification. GO annotations related to this gene include magnesium ion binding and phosphoglucomutase activity.
UniProtKB/Swiss-Prot for PGM3 Gene
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.