Gene: PC

Alternate names for this Gene: PCB

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. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.2

Description of this Gene: pyruvate carboxylase

Type of Gene: protein-coding

rs7122539 in PC gene and Autistic Disorder PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.

rs7122539 in PC gene and Bipolar Disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs113994145 in PC gene and Pyruvate Carboxylase Deficiency Disease PMID 18676167 2008 The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.

PMID 19306334 2009 Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 23430542 2013 Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency.

PMID 12112657 2002 Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings.

rs191456353 in PC gene and Squamous cell carcinoma of lung PMID 29924316 2018 Genome-wide association study of familial lung cancer.

rs7110302 in PC gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

rs79214621 in PC gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.