PCB rabbit polyclonal, anti-human, mouse, rat

Backgroud: 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],catalytic activity:ATP + pyruvate + HCO(3)(-) = ADP + phosphate + oxaloacetate.,cofactor:Binds 1 manganese ion per subunit.,cofactor:Biotin.,disease:Defects in PC are the cause of pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]. 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.,function: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.,online information:Pyruvate carboxylase entry,pathway:Carbohydrate biosynthesis; gluconeogenesis.,similarity:Contains 1 ATP-grasp domain.,similarity:Contains 1 biotin carboxylation domain.,similarity:Contains 1 biotinyl-binding domain.,similarity:Contains 1 carboxyltransferase domain.,subunit:Homotetramer.,

Synonyms: PC, Pyruvate carboxylase, mitochondrial, Pyruvic carboxylase, PCB

Gene Name: PC

Gene ID: 5091

SwissProt ID: P11498

Purification: Affinity purification

Storage: Store at 4°C short term. Aliquot and store at -20°C for 12 months. Avoid freeze/thaw cycles.