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.
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Protein Aliases: p53-induced gene 6 protein; PRODH 1; PRODH 2; proline dehydrogenase (oxidase) 1; Proline dehydrogenase 1, mitochondrial; Proline oxidase; Proline oxidase 2; proline oxidase, mitochondrial; SCZD4; tumor protein p53 inducible protein 6
Gene Aliases: HSPOX2; PIG6; POX; POX2; PRODH; PRODH1; PRODH2; TP53I6
UniProt ID: (Human) O43272
Entrez Gene ID: (Human) 5625
Molecular Function: oxidase