PCK2 è un gene codificato dal simbolo PCK2. Comunemente indicato anche come: Phosphoenolpyruvate carboxykinase [GTP], mitochondrial; PEPCK-M; PEPCK2. PCK2 ha una massa di 70.7kDa, una lunghezza di amminoacidi di 640, ed è implicato in Mitochondrial phosphoenolpyruvate carboxykinase deficiency.
Offriamo 3 anticorpi contro PCK2, allevati nel Coniglio e Capra, che sono adatti per WB, IHC, ELISA, ICC/IF e IP con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo 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.
Sommario di Entrez
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.
Coinvolgimento nella malattia
Mitochondrial phosphoenolpyruvate carboxykinase deficiency: 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.
Somiglianze di sequenza
Belongs to the phosphoenolpyruvate carboxykinase [GTP] family.
Posizione cellulare
Mitochondrion.
