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The protein encoded by this 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.
HSPOX2; p53-induced gene 6 protein; PIG6; POX; POX2; Pro1; Pro-1; Prodh; PRODH 1; PRODH 2; PRODH1; PRODH2; proline dehydrogenase; proline dehydrogenase (oxidase) 1; proline dehydrogenase (proline oxidase); proline dehydrogenase 1; proline dehydrogenase 1, mitochondrial; proline dehydrogenase, mitochondrial; proline oxidase; Proline oxidase 2; proline oxidase, mitochondrial; SCZD4; TP53I6; tumor protein p53 inducible protein 6; Ym24d07
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