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Background
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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].
Synonyms: Pyruvate carboxylase, mitochondrial,PC,
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Molecular Weight
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129634 DA
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Gene ID
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5091
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NCBI Accession
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NP_000911, NP_001035806, NP_071504
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UniProt
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P11498
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Research Area
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Signaling, Phospho-specific antibodies, Cell Signaling, Protein Modifications, Chromatin, Metabolism, Cell Structure
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