PGK1 Chromosome X

Phosphoglycerate kinase 1
37 variants 37 Health Risk

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What This Gene Does
The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. Additionally, this protein is secreted by tumor cells where it participates in angiogenesis by functioning to reduce disulfide bonds in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Deficiency of the enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome. [provided by RefSeq, Jan 2014]
Associated Conditions (5)
Inborn genetic diseases
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
PGK1-related disorder
Hereditary skeletal muscle disorder
Male infertility due to obstructive azoospermia
Key Variants
RS142134146
Conflicting classifications of pathogenicity
Health Risk
RS144399762
Conflicting classifications of pathogenicity
Inborn genetic diseases, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Inborn genetic diseases
Health Risk
RS148399096
Conflicting classifications of pathogenicity
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, PGK1-related disorder, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Health Risk
RS1557247556
Conflicting classifications of pathogenicity
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Health Risk
RS183087139
Conflicting classifications of pathogenicity
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Inborn genetic diseases, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Health Risk
RS199563733
Conflicting classifications of pathogenicity
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Health Risk
RS199644680
Conflicting classifications of pathogenicity
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Inborn genetic diseases, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Health Risk
RS201238498
Conflicting classifications of pathogenicity
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Health Risk
RS202138276
Conflicting classifications of pathogenicity
Hereditary skeletal muscle disorder, Hereditary skeletal muscle disorder
Health Risk
RS377001714
Conflicting classifications of pathogenicity
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Health Risk
RS431905502
Conflicting classifications of pathogenicity
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, PGK1-related disorder, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Health Risk
RS727504084
Conflicting classifications of pathogenicity
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Health Risk
All Variants (37)
RSID Category Clinical Significance Conditions
RS142134146 Health Risk Conflicting classifications of pathogenicity —
RS144399762 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Inborn genetic diseases
RS148399096 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, PGK1-related disorder, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS1557247556 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS183087139 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Inborn genetic diseases, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS199563733 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS199644680 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Inborn genetic diseases, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS201238498 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS202138276 Health Risk Conflicting classifications of pathogenicity Hereditary skeletal muscle disorder, Hereditary skeletal muscle disorder
RS377001714 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS431905502 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, PGK1-related disorder, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS727504084 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS781875982 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS781899954 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782165735 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS782483245 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS782667719 Health Risk Conflicting classifications of pathogenicity —
RS782795716 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Inborn genetic diseases
RS797044505 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS929302665 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS1057524140 Health Risk Likely pathogenic —
RS1569550773 Health Risk Likely pathogenic Male infertility due to obstructive azoospermia, Male infertility due to obstructive azoospermia
RS2149132078 Health Risk Likely pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS2149136994 Health Risk Likely pathogenic —
RS2149137048 Health Risk Likely pathogenic —
RS431905503 Health Risk Likely pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS137852528 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS137852529 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS137852531 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS137852532 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS137852533 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS137852535 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS137852536 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS137852537 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS137852538 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS137852539 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS431905501 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
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