功能： catalytic activity:GTP + oxaloacetate = GDP + phosphoenolpyruvate + CO(2).,cofactor:Binds 1 manganese ion per subunit.,cofactor:Manganese.,disease:Defects in PCK2 are the cause of mitochondrial phosphoenolpyruvate carboxykinase deficiency (mitochondrial PEPCK deficiency) [MIM:261650]. PEPCK deficiency is a metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycaemia. Autoposy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait.,function:Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle.,miscellaneous:In eukaryotes there are two isozymes: a cytoplasmic one and a mitochondrial one.,pathway:Carbohydrate biosynthesis; gluconeogenesis.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the phosphoenolpyruvate carboxykinase [GTP] family.,subunit:Monomer.,
功能： catalytic activity:GTP + oxaloacetate = GDP + phosphoenolpyruvate + CO(2).,cofactor:Binds 1 manganese ion per subunit.,cofactor:Manganese.,disease:Defects in PCK2 are the cause of mitochondrial phosphoenolpyruvate carboxykinase deficiency (mitochondrial PEPCK deficiency) [MIM:261650]. PEPCK deficiency is a metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycaemia. Autoposy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait.,function:Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle.,miscellaneous:In eukaryotes there are two isozymes: a cytoplasmic one and a mitochondrial one.,pathway:Carbohydrate biosynthesis; gluconeogenesis.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the phosphoenolpyruvate carboxykinase [GTP] family.,subunit:Monomer.,
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