PC Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Jul 2008]

PC: 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. Defects in PC are the cause of pyruvate carboxylase deficiency (PC deficiency). PC 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.

Protein type: Carbohydrate Metabolism - pyruvate; Ligase; Carbohydrate Metabolism - citrate (TCA) cycle; Mitochondrial; EC 6.4.1.1

Chromosomal Location of Human Ortholog: 11q13.4-q13.5

Cellular Component: mitochondrion; mitochondrial matrix; cytoplasm; mitochondrial inner membrane; cytosol

Molecular Function: pyruvate carboxylase activity; protein binding; DNA binding; metal ion binding; biotin carboxylase activity; biotin binding; ATP binding

Biological Process: oxaloacetate metabolic process; vitamin metabolic process; viral RNA genome packaging; carbohydrate metabolic process; glucose metabolic process; pathogenesis; lipid metabolic process; pyruvate metabolic process; water-soluble vitamin metabolic process; biotin metabolic process; gluconeogenesis

Disease: Pyruvate Carboxylase Deficiency