PC

PC is 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.

Full Name

Pyruvate Carboxylase

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.

Biological Process

GluconeogenesisManual Assertion Based On ExperimentIBA:GO_Central
Lipid metabolic processIEA:UniProtKB-KW
Negative regulation of gene expressionManual Assertion Based On ExperimentIMP:AgBase
Positive regulation by host of viral processManual Assertion Based On ExperimentIMP:AgBase
Pyruvate metabolic processManual Assertion Based On ExperimentIBA:GO_Central
Viral release from host cellManual Assertion Based On ExperimentIMP:AgBase
Viral RNA genome packagingManual Assertion Based On ExperimentIMP:AgBase

Cellular Location

Mitochondrion matrix

Involvement in disease

Pyruvate carboxylase 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.

PTM

Acetylation of Lys-748 might play a role in catalytic activity regulation.