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  • Human PDHX wild-type allele is located in the vicinity of 11p13 and is approximately 105 kb in length. This allele, which encodes pyruvate dehydrogenase protein X component, mitochondrial protein, is involved in the regulation of pyruvate dehydrogenase activity. Mutation of the gene is associated with lactic acidosis due to pyruvate dehydrogenase E3-binding protein deficiency.
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