Gene Symbol | PRODH |
Entrez Gene ID | 5625 |
Full Name | proline dehydrogenase 1 |
Synonyms | HSPOX2,PIG6,POX,PRODH1,PRODH2,TP53I6 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Aug 2010]. |
Disorder MIM: | |
Disorder Html: | Hyperprolinemia, type I, 239500 (3); {Schizophrenia, susceptibility to, 4}, 600850 (3) |