PGAM2 Chromosome 7
Phosphoglycerate mutase 2
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What This Gene Does
Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
"Phosphoglycerate mutases|Bisphosphoglycerate phosphatases"
Locus Type
gene with protein product
Location
7p13
Ensembl
ENSG00000164708
Associated Conditions (6)
Glycogen storage disease type X
PGAM2-related disorder
Inborn genetic diseases
Uterine corpus endometrial carcinoma
Familial pancreatic carcinoma
Rhabdomyolysis
Key Variants
RS104894030
Conflicting classifications of pathogenicity
Glycogen storage disease type X, Glycogen storage disease type X
Health Risk
RS139561812
Conflicting classifications of pathogenicity
Glycogen storage disease type X, Glycogen storage disease type X
Health Risk
RS140230479
Conflicting classifications of pathogenicity
Glycogen storage disease type X, PGAM2-related disorder, Glycogen storage disease type X
Health Risk
RS140545494
Conflicting classifications of pathogenicity
Glycogen storage disease type X, Glycogen storage disease type X
Health Risk
RS142209394
Conflicting classifications of pathogenicity
Glycogen storage disease type X, PGAM2-related disorder, Glycogen storage disease type X
Health Risk
RS143809043
Conflicting classifications of pathogenicity
Glycogen storage disease type X, PGAM2-related disorder, Glycogen storage disease type X
Health Risk
RS150570281
Conflicting classifications of pathogenicity
Glycogen storage disease type X, PGAM2-related disorder, Glycogen storage disease type X
Health Risk
RS199869174
Conflicting classifications of pathogenicity
Glycogen storage disease type X, Inborn genetic diseases, PGAM2-related disorder
Health Risk
RS201133395
Conflicting classifications of pathogenicity
Glycogen storage disease type X, Uterine corpus endometrial carcinoma, Familial pancreatic carcinoma
Health Risk
RS372452057
Conflicting classifications of pathogenicity
Glycogen storage disease type X, Inborn genetic diseases, Glycogen storage disease type X
Health Risk
RS755125202
Conflicting classifications of pathogenicity
Glycogen storage disease type X, Glycogen storage disease type X
Health Risk
RS77938727
Conflicting classifications of pathogenicity
Glycogen storage disease type X, Glycogen storage disease type X
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894030 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease type X, Glycogen storage disease type X |
| RS139561812 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease type X, Glycogen storage disease type X |
| RS140230479 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease type X, PGAM2-related disorder, Glycogen storage disease type X |
| RS140545494 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease type X, Glycogen storage disease type X |
| RS142209394 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease type X, PGAM2-related disorder, Glycogen storage disease type X |
| RS143809043 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease type X, PGAM2-related disorder, Glycogen storage disease type X |
| RS150570281 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease type X, PGAM2-related disorder, Glycogen storage disease type X |
| RS199869174 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease type X, Inborn genetic diseases, PGAM2-related disorder |
| RS201133395 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease type X, Uterine corpus endometrial carcinoma, Familial pancreatic carcinoma |
| RS372452057 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease type X, Inborn genetic diseases, Glycogen storage disease type X |
| RS755125202 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease type X, Glycogen storage disease type X |
| RS77938727 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease type X, Glycogen storage disease type X |
| RS780650903 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease type X, Glycogen storage disease type X |
| RS750422335 | Health Risk | Likely pathogenic | Rhabdomyolysis, Rhabdomyolysis |
| RS2484210332 | Health Risk | Pathogenic | Glycogen storage disease type X, Glycogen storage disease type X |
| RS2484210663 | Health Risk | Pathogenic | Glycogen storage disease type X, Glycogen storage disease type X |
| RS2484210705 | Health Risk | Pathogenic | Glycogen storage disease type X, Glycogen storage disease type X |
| RS540266988 | Health Risk | Pathogenic | Glycogen storage disease type X, Glycogen storage disease type X |
| RS764676548 | Health Risk | Pathogenic | Glycogen storage disease type X, Glycogen storage disease type X |
| RS10250779 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type X, PGAM2-related disorder, Glycogen storage disease type X |
| RS747947171 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type X, Glycogen storage disease type X |
| RS764567774 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type X, Glycogen storage disease type X |