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    For Research Use Only. Not For Clinical Use.


    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.
    Protein class

    Citric acid cycle related proteins, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets

    Predicted location

    Intracellular

    Single cell type specificity

    Cell type enhanced (Hepatocytes, Late spermatids)

    Immune cell specificity

    Low immune cell specificity

    Cell line specificity

    Cell line enhanced (HeLa)

    Interaction

    Homotetramer (PubMed:18297087). Interacts (via the biotin carboxylation domain) with SIRT4 (PubMed:23438705).

    Molecular function

    Ligase, Multifunctional enzyme

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