PC
LOCUS ID5091
GENE_SYMBOLPC
GENE NAMEpyruvate carboxylase
SYNONYMNSPCB
CHROMOSOME11
HOMOLOGENE IDNA
microRNAsNANA
GENE 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. Altertively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. A protective effect of activated PC in diabetic nephropathy is established.23014597