PCB est un gène codé par le symbole PC. Communément appelé aussi: Pyruvate carboxylase, mitochondrial; Pyruvic carboxylase; PC. PCB a une masse de 129.63kDa, une longueur d'acide aminé de 1178, et est impliqué dans Pyruvate carboxylase deficiency.
Nous proposons 6 des anticorps contre PCB, élevé dans Lapin et Chèvre, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF, Cytométrie en Flux et IP avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second. Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose tissue, liver, brain) synthesis from pyruvate.
Résumé Entrez
This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene.
Implication dans la maladie
Pyruvate carboxylase deficiency: Leads to lactic acidosis, mental retardation and death. It occurs in three forms: mild or type A, severe neonatal or type B, and a very mild lacticacidemia.
Modification post-traductionnelle
Acetylation of Lys-748 might play a role in catalytic activity regulation.
Localisation cellulaire
Mitochondrion matrix.
