PC (Entrez ID: 5091)

Entrez Gene ID 5091
Official Gene Symbol PC (GeneCards)
Full name pyruvate carboxylase
Location 11q13.2
Other ids Vega : OTTHUMG00000167099
MIM : 608786
HGNC : HGNC:8636
Ensembl : ENSG00000173599
Other names PCB
Summary 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]

Variants

Found 8 variants in this database.