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PRODH

 

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. A

Pathology

-  PRODH missense mutations in type I hyperprolinemia (HPI) and schizophrenia



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