Functional consequences of PRODH missense mutations.

  title={Functional consequences of PRODH missense mutations.},
  author={H Bender and Shlomo Almashanu and Gary Steel and Chien-an A. Hu and W W Lin and Alecia Willis and Ann E Pulver and David Valle},
  journal={American journal of human genetics},
  volume={76 3},
PRODH maps to 22q11 in the region deleted in the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) and encodes proline oxidase (POX), a mitochondrial inner-membrane enzyme that catalyzes the first step in the proline degradation pathway. At least 16 PRODH missense mutations have been identified in studies of type I hyperprolinemia (HPI) and schizophrenia, 10 of which are present at polymorphic frequencies. The functional consequences of these missense mutations have been inferred by… CONTINUE READING
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