| PC |
| LOCUS ID | 5091 | ||||||||||
| GENE_SYMBOL | PC | ||||||||||
| GENE NAME | pyruvate carboxylase | ||||||||||
| SYNONYMNS | PCB | ||||||||||
| CHROMOSOME | 11 | ||||||||||
| HOMOLOGENE ID | 0 |
| microRNAs | NA | NA |
| 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 varia |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Nephropathy | 1. A protective effect of activated PC in diabetic nephropathy is established. | 23014597 |