From NCBI Gene: Phosphoenolpyruvate carboxykinase deficiency, cytosolicFrom UniProt: Cytosolic phosphoenolpyruvate carboxykinase deficiency (C-PEPCKD): 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. Autopsy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait. [MIM:261680]

     From NCBI Gene: 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] From UniProt: 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.

The following transcription factors affect gene expression:

• PPAR-gamma1
• PPAR-gamma2
• GR
• GR-alpha
• GR-beta
• C/EBPalpha

Tissue specificity:

Major sites of expression are liver, kidney and adipocytes.

Induction:

Regulated by cAMP and insulin.

Enzyme Regulation:

Enzyme activity is enhanced by acetylation.

Cofactor:

Binds 1 Mn(2+) ion per subunit.

Molecular Function:

• Magnesium Ion Binding
• Nucleoside Diphosphate Kinase Activity
• Phosphoenolpyruvate Carboxykinase (Gtp) Activity
• Gtp Binding
• Gdp Binding
• Manganese Ion Binding
• Carboxylic Acid Binding

Biological Processes:

• Glucose Metabolic Process
• Gluconeogenesis
• Oxaloacetate Metabolic Process
• Internal Protein Amino Acid Acetylation
• Aging
• Response To Lipopolysaccharide
• Response To Insulin
• Cellular Response To Insulin Stimulus
• Glucose Homeostasis
• Glycerol Biosynthetic Process From Pyruvate
• Cellular Response To Potassium Ion Starvation
• Positive Regulation Of Transcription From Rna Polymerase Ii Promoter In Response To Acidic Ph
• Response To Interleukin-6
• Cellular Response To Retinoic Acid
• Cellular Response To Camp
• Cellular Response To Fructose Stimulus
• Cellular Response To Interleukin-1
• Cellular Response To Tumor Necrosis Factor
• Cellular Response To Glucagon Stimulus
• Cellular Response To Hypoxia
• Response To Methionine