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 Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (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.