PGM3
Function
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.
Involvement in disease
Immunodeficiency 23
IMD23
A primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood, severe atopy, increased serum IgE, and developmental delay or cognitive impairment of varying severity.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; N-acetyl-alpha-D-glucosamine 1-phosphate from alpha-D-glucosamine 6-phosphate (route I): step 2/2.
Sequence Similarities
Belongs to the phosphohexose mutase family.
Tissue Specificity
Found in many tissues except lung. Relatively high expression in pancreas, heart, liver, and placenta, and relatively low expression in brain, skeletal muscle and kidney.
Alternative names
AGM1, PGM3, Phosphoacetylglucosamine mutase, PAGM, Acetylglucosamine phosphomutase, N-acetylglucosamine-phosphate mutase, Phosphoglucomutase-3, PGM 3