PCB ist ein Gen, das durch das Symbol PC kodiert wird. Im Allgemeinen auch bezeichnet als: Pyruvate carboxylase, mitochondrial; Pyruvic carboxylase; PC. PCB hat eine Masse von 129.63kDa, eine Aminosäurelänge von 1178, und ist an Pyruvate carboxylase deficiency beteiligt.
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Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
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.
Posttranslationale Modifikation
Acetylation of Lys-748 might play a role in catalytic activity regulation.
Zellort
Mitochondrion matrix.
