Aliases for PC Gene
External Ids for PC Gene
Previous GeneCards Identifiers for PC Gene
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]
GeneCards Summary for PC Gene
PC (Pyruvate Carboxylase) is a Protein Coding gene. Diseases associated with PC include Pyruvate Carboxylase Deficiency and Thrombophilia Due To Protein C Deficiency, Autosomal Dominant. Among its related pathways are Defects in biotin (Btn) metabolism and Diseases of metabolism. GO annotations related to this gene include ligase activity and biotin carboxylase activity.
UniProtKB/Swiss-Prot for PC Gene
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.