Entrez gene ID | | 5625 |
Official gene symbol | | PRODH |
Full name | | proline dehydrogenase (oxidase) 1 |
Aliases | | ,FLJ33744,HSPOX2,MGC148078,MGC148079,PIG6,POX,PRODH1,PRODH2,SCZD4,TP53I6, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 22 Locus: 22q11.21 |
Gene position | | 18923814 - 18900294 Map Viewer |
Gene orientation | | minus |
Gene size | | 23521 bp |
Gene sequence |
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OMIM ID | | 606810 |
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