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PRODH is 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.
Gene Name: | proline dehydrogenase (oxidase) 1 |
Synonyms: | PRODH, HSPOX2, p53-induced gene 6 protein, POX, POX2, Proline oxidase, mitochondrial, Proline dehydrogenase, Proline oxidase, Proline oxidase 2, SCZD4, TP53I6, PRODH1, PIG6 |
Target Sequences: | NM_016335 NP_057419.4 O43272 |
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