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] |
Found 8 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
355 | 5091 | PC | 11 | 66619351 | 66619351 | Pyruvate carboxylase deficiency | RTPCR |
356 | 5091 | PC | 11 | 66617869 | 66617869 | Pyruvate carboxylase deficiency | RTPCR |
357 | 5091 | PC | 11 | 66617869 | 66617869 | Pyruvate carboxylase deficiency | RTPCR |
358 | 5091 | PC | 11 | 66619351 | 66619351 | Pyruvate carboxylase deficiency | RTPCR |
359 | 5091 | PC | 11 | 66619351 | 66619351 | Pyruvate carboxylase deficiency | RTPCR |
360 | 5091 | PC | 11 | 66617869 | 66617869 | Pyruvate carboxylase deficiency | RTPCR |
361 | 5091 | PC | 11 | 66619351 | 66619351 | Pyruvate carboxylase deficiency | RTPCR |
29622 | 5091 | PC | 11 | 66617104 | 66617104 | Autism Spectrum Disorders | RTPCR MiSeq |