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Official Full Name
proline dehydrogenase (oxidase) 1
Background
This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Synonyms
PRODH; proline dehydrogenase (oxidase) 1; proline dehydrogenase (proline oxidase ); proline dehydrogenase 1, mitochondrial; HSPOX2; PIG6; PRODH1; PRODH2; TP53I6; proline oxidase 2; p53-induced gene 6 protein; proline oxidase, mitochondrial; tumor protein; tumor protein p53 inducible protein 6; POX; FLJ33744; MGC148078; MGC148079

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