Phosphoenolpyruvate Carboxykinase 1 (PCK1) Human Recombinant Protein

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]

PCK1: 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. Defects in PCK1 are the cause of cytosolic phosphoenolpyruvate carboxykinase deficiency (C-PEPCKD). 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. Belongs to the phosphoenolpyruvate carboxykinase [GTP] family.

Protein type: Carbohydrate Metabolism - glycolysis and gluconeogenesis; Lyase; Kinase, other; Carbohydrate Metabolism - pyruvate; Carbohydrate Metabolism - citrate (TCA) cycle; EC 4.1.1.32

Chromosomal Location of Human Ortholog: 20q13.31

Cellular Component: cytoplasm; cytosol

Molecular Function: GDP binding; GTP binding; carboxylic acid binding; manganese ion binding; phosphoenolpyruvate carboxykinase (GTP) activity; magnesium ion binding

Biological Process: oxaloacetate metabolic process; carbohydrate metabolic process; glucose metabolic process; pathogenesis; response to activity; glucose homeostasis; internal protein amino acid acetylation; glycerol biosynthetic process from pyruvate; drug metabolic process; response to insulin stimulus; gluconeogenesis

Disease: Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic