The locus for pyruvate dehydrogenase E1 α subunit (Pdha1) lies between Plp and Amg on the mouse X Chromosome

  title={The locus for pyruvate dehydrogenase E1 α subunit (Pdha1) lies between Plp and Amg on the mouse X Chromosome},
  author={Helen J. Blair and Vivienne Reed and Steven H. Laval and Yvonne Boyd},
  journal={Mammalian Genome},
The most common cause of primary lactic acidosis in humans is a defect in the E1 tx polypeptide (PDHA1) of the pyruvate dehydrogenase complex (PDH) which is responsible for the conversion of pyruvate to acetylCoA within the mitochondrion. PDHE1 (E.C. is a tetramer composed of two alpha and two beta subunits and provides the pyruvate decarboxylase activity necessary for this conversion. Male and female patients with PDH deficiency exhibit a range of clinical features from early onset of… CONTINUE READING
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