PCK1 Chromosome 20

Phosphoenolpyruvate carboxykinase 1

25 variants 25 Health Risk

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What This Gene Does

This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]

Associated Conditions (8)

Phosphoenolpyruvate carboxykinase deficiency

cytosolic

Inborn genetic diseases

PCK1-related disorder

Colon adenocarcinoma

Hepatocellular carcinoma

Clear cell carcinoma of kidney

Ovarian serous cystadenocarcinoma

Key Variants

RS11552146

Conflicting classifications of pathogenicity

Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Inborn genetic diseases

Health Risk

RS140553751

Conflicting classifications of pathogenicity

Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Phosphoenolpyruvate carboxykinase deficiency

Health Risk

RS141878699

Conflicting classifications of pathogenicity

Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Phosphoenolpyruvate carboxykinase deficiency

Health Risk

RS143220447

Conflicting classifications of pathogenicity

Phosphoenolpyruvate carboxykinase deficiency, cytosolic, PCK1-related disorder

Health Risk

RS147120329

Conflicting classifications of pathogenicity

Phosphoenolpyruvate carboxykinase deficiency, cytosolic, PCK1-related disorder

Health Risk

RS147943264

Conflicting classifications of pathogenicity

Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Phosphoenolpyruvate carboxykinase deficiency

Health Risk

RS148684857

Conflicting classifications of pathogenicity

Phosphoenolpyruvate carboxykinase deficiency, cytosolic, PCK1-related disorder

Health Risk

RS150928523

Conflicting classifications of pathogenicity

Phosphoenolpyruvate carboxykinase deficiency, cytosolic, PCK1-related disorder

Health Risk

RS183812420

Conflicting classifications of pathogenicity

Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Phosphoenolpyruvate carboxykinase deficiency

Health Risk

RS200152114

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS200771350

Conflicting classifications of pathogenicity

Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Phosphoenolpyruvate carboxykinase deficiency

Health Risk

RS201186470

Conflicting classifications of pathogenicity

Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Phosphoenolpyruvate carboxykinase deficiency

Health Risk

All Variants (25)

RSID	Category	Clinical Significance	Conditions
RS11552146	Health Risk	Conflicting classifications of pathogenicity	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Inborn genetic diseases
RS140553751	Health Risk	Conflicting classifications of pathogenicity	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Phosphoenolpyruvate carboxykinase deficiency
RS141878699	Health Risk	Conflicting classifications of pathogenicity	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Phosphoenolpyruvate carboxykinase deficiency
RS143220447	Health Risk	Conflicting classifications of pathogenicity	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, PCK1-related disorder
RS147120329	Health Risk	Conflicting classifications of pathogenicity	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, PCK1-related disorder
RS147943264	Health Risk	Conflicting classifications of pathogenicity	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Phosphoenolpyruvate carboxykinase deficiency
RS148684857	Health Risk	Conflicting classifications of pathogenicity	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, PCK1-related disorder
RS150928523	Health Risk	Conflicting classifications of pathogenicity	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, PCK1-related disorder
RS183812420	Health Risk	Conflicting classifications of pathogenicity	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Phosphoenolpyruvate carboxykinase deficiency
RS200152114	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS200771350	Health Risk	Conflicting classifications of pathogenicity	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Phosphoenolpyruvate carboxykinase deficiency
RS201186470	Health Risk	Conflicting classifications of pathogenicity	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Phosphoenolpyruvate carboxykinase deficiency
RS28359542	Health Risk	Conflicting classifications of pathogenicity	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, PCK1-related disorder
RS28383585	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS373906233	Health Risk	Conflicting classifications of pathogenicity	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Inborn genetic diseases
RS377356631	Health Risk	Conflicting classifications of pathogenicity	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Phosphoenolpyruvate carboxykinase deficiency
RS41302559	Health Risk	Conflicting classifications of pathogenicity	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, PCK1-related disorder
RS45559338	Health Risk	Conflicting classifications of pathogenicity	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Phosphoenolpyruvate carboxykinase deficiency
RS61760967	Health Risk	Conflicting classifications of pathogenicity	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Inborn genetic diseases
RS748437548	Health Risk	Conflicting classifications of pathogenicity	—
RS764002893	Health Risk	Conflicting classifications of pathogenicity	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Phosphoenolpyruvate carboxykinase deficiency
RS779245706	Health Risk	Conflicting classifications of pathogenicity	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Phosphoenolpyruvate carboxykinase deficiency
RS776767788	Health Risk	Likely pathogenic	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Phosphoenolpyruvate carboxykinase deficiency
RS2070161874	Health Risk	Pathogenic	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Phosphoenolpyruvate carboxykinase deficiency
RS935836462	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases