PCK2

This gene encodes a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encoded by a different gene and is the key enzyme of gluconeogenesis in the liver. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2014]

Phosphoenolpyruvate Carboxykinase 2, Mitochondrial

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.

Cellular response to dexamethasone stimulusManual Assertion Based On ExperimentIBA:GO_Central
Cellular response to glucose stimulusManual Assertion Based On ExperimentIBA:GO_Central
Cellular response to insulin stimulusManual Assertion Based On ExperimentIBA:GO_Central
Cellular response to tumor necrosis factorIEA:Ensembl
GluconeogenesisManual Assertion Based On ExperimentIBA:GO_Central
Glycerol biosynthetic process from pyruvateManual Assertion Based On ExperimentIBA:GO_Central
Hepatocyte differentiationManual Assertion Based On ExperimentIBA:GO_Central
NADH oxidationIEA:Ensembl
Oxaloacetate metabolic processIEA:Ensembl
Positive regulation of insulin secretionIEA:Ensembl
Propionate catabolic processManual Assertion Based On ExperimentIBA:GO_Central
Response to lipidManual Assertion Based On ExperimentIBA:GO_Central
Response to lipopolysaccharideIEA:Ensembl
Response to starvationManual Assertion Based On ExperimentIBA:GO_Central

Mitochondrion

Mitochondrial phosphoenolpyruvate carboxykinase deficiency (M-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.