Entity Details

Primary name PGM3
Entity type gene
Source Source Link

Details

PrimaryID5238
RefseqGeneNG_034146
SymbolPGM3
Namephosphoglucomutase 3
Chromosome6
Location6q14.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsAGM1_HUMAN

GO terms

Show/Hide Table
GOName
GO:0000287 magnesium ion binding
GO:0004610 phosphoacetylglucosamine mutase activity
GO:0004614 phosphoglucomutase activity
GO:0005829 cytosol
GO:0005975 carbohydrate metabolic process
GO:0006041 glucosamine metabolic process
GO:0006048 UDP-N-acetylglucosamine biosynthetic process
GO:0006487 protein N-linked glycosylation
GO:0006493 protein O-linked glycosylation
GO:0007283 spermatogenesis
GO:0019255 glucose 1-phosphate metabolic process
GO:0030097 hemopoiesis

Diseases

Show/Hide Table
Disease IDSourceNameDescription
615816 OMIMImmunodeficiency 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. The disease is caused by variants affecting the gene represented in this entry.