PC, Official Symbol PCprovided by HGNC Official Full Name pyruvate carboxylaseprovided by HGNC Primary source HGNC:HGNC:8636 See related Ensembl:ENSG00000173599 MIM:608786; AllianceGenome:HGNC:8636 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 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] Expression Biased expression in fat (RPKM 30.0), liver (RPKM 19.3) and 13 other tissues See more Orthologs mouse all