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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PC-20-RE | 20 (40 μL) | 200 μL |  |
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| PC-20-OR | 20 (40 μL) | 200 μL |  |
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| PC-20-GO | 20 (40 μL) | 200 μL |  |
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| PC-20-GR | 20 (40 μL) | 200 μL |  |
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| PC-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : PC
Gene Name : Pyruvate carboxylase
Chromosome : CHR 11: 669,584,17-668,485,21
Locus : 11q13.2
Alt. Genes : EBI3
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