PC
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.
Involvement in disease
Pyruvate carboxylase deficiency
PC deficiency
Leads to lactic acidosis, intellectual disability and death. It occurs in three forms: mild or type A, severe neonatal or type B, and a very mild lacticacidemia.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Carbohydrate biosynthesis; gluconeogenesis.
Post-translational modifications
Acetylation of Lys-748 might play a role in catalytic activity regulation.
Cellular localization
- Mitochondrion matrix
Alternative names
Pyruvic carboxylase, PCB, PC