機能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.
組織特異性Major sites of expression are liver, kidney and adipocytes.
パスウェイCarbohydrate biosynthesis; gluconeogenesis.
関連疾患Defects in PCK1 are the cause of cytosolic phosphoenolpyruvate carboxykinase deficiency (cytosolic PEPCK deficiency) [MIM:261680]. 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 hypoglycemia. Autoposy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait.
配列類似性Belongs to the phosphoenolpyruvate carboxykinase [GTP] family.
翻訳後修飾Acetylation is increased on addition of glucose and appears to regulate the protein stability.