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The protein encoded by the PRODH gene is a mitochondrial proline dehydrogenase that catalyzes the first step in proline degradation. Defects in this gene are a cause of hyperprolinemia type 1 and possibly susceptibility to schizophrenia 4 (SCZD4). The gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes DiGeorge syndrome and CATCH22 syndrome. (provided by RefSeq)
