PGM3

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]

Full Name

Phosphoglucomutase 3

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.

Biological Process

Carbohydrate metabolic processIEA:UniProtKB-KW
Glucosamine metabolic process1 PublicationNAS:UniProtKB
Glucose 1-phosphate metabolic processIEA:Ensembl
HemopoiesisManual Assertion Based On ExperimentIBA:GO_Central
Protein N-linked glycosylationManual Assertion Based On ExperimentIMP:UniProtKB
Protein O-linked glycosylationManual Assertion Based On ExperimentIMP:UniProtKB
SpermatogenesisIEA:Ensembl
UDP-N-acetylglucosamine biosynthetic processManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Cytosol

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.