PGM1 Chromosome 1
Phosphoglucomutase 1
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What This Gene Does
The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]
Associated Conditions (8)
PGM1-congenital disorder of glycosylation
PGM1-related disorder
Malignant lymphoma
large B-cell
diffuse
Gastric cancer
Inborn genetic diseases
Congenital disorder of glycosylation
Key Variants
RS142222746
Conflicting classifications of pathogenicity
PGM1-congenital disorder of glycosylation, PGM1-related disorder, PGM1-congenital disorder of glycosylation
Health Risk
RS145807501
Conflicting classifications of pathogenicity
PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
Health Risk
RS145972303
Conflicting classifications of pathogenicity
PGM1-congenital disorder of glycosylation, PGM1-related disorder, Malignant lymphoma
Health Risk
RS1466885233
Conflicting classifications of pathogenicity
Inborn genetic diseases, PGM1-congenital disorder of glycosylation, Inborn genetic diseases
Health Risk
RS150266274
Conflicting classifications of pathogenicity
PGM1-congenital disorder of glycosylation, PGM1-related disorder, PGM1-congenital disorder of glycosylation
Health Risk
RS1553121290
Conflicting classifications of pathogenicity
PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
Health Risk
RS200390982
Conflicting classifications of pathogenicity
PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
Health Risk
RS200407907
Conflicting classifications of pathogenicity
PGM1-congenital disorder of glycosylation, PGM1-related disorder, PGM1-congenital disorder of glycosylation
Health Risk
RS200881174
Conflicting classifications of pathogenicity
PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
Health Risk
RS371275043
Conflicting classifications of pathogenicity
PGM1-congenital disorder of glycosylation, Inborn genetic diseases, PGM1-related disorder
Health Risk
RS375450688
Conflicting classifications of pathogenicity
PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
Health Risk
RS541069522
Conflicting classifications of pathogenicity
PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
Health Risk
All Variants (56)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1453920894 | Health Risk | Pathogenic/Likely pathogenic | PGM1-congenital disorder of glycosylation, Congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation |
| RS377295149 | Health Risk | Pathogenic/Likely pathogenic | PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation |
| RS587777404 | Health Risk | Pathogenic/Likely pathogenic | PGM1-congenital disorder of glycosylation, PGM1-related disorder, PGM1-congenital disorder of glycosylation |
| RS745993071 | Health Risk | Pathogenic/Likely pathogenic | PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation |
| RS772768778 | Health Risk | Pathogenic/Likely pathogenic | PGM1-congenital disorder of glycosylation, PGM1-related disorder, PGM1-congenital disorder of glycosylation |
| RS777164338 | Health Risk | Pathogenic/Likely pathogenic | PGM1-congenital disorder of glycosylation, PGM1-related disorder, PGM1-congenital disorder of glycosylation |