PCB è un gene codificato dal simbolo PC. Comunemente indicato anche come: Pyruvate carboxylase, mitochondrial; Pyruvic carboxylase; PC. PCB ha una massa di 129.63kDa, una lunghezza di amminoacidi di 1178, ed è implicato in Pyruvate carboxylase deficiency.
Offriamo 6 anticorpi contro PCB, allevati nel Coniglio e Capra, che sono adatti per WB, IHC, ELISA, ICC/IF, Citometria a Flusso e IP con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Coinvolgimento nella malattia
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.
Modifica post-translazionale
Acetylation of Lys-748 might play a role in catalytic activity regulation.
Posizione cellulare
Mitochondrion matrix.
