Protein Name | proline dehydrogenase 1 |
---|---|
Organism | Homo sapiens |
Gene ID | 5625 |
Gene Symbol | PRODH |
UniProt | O43272 (PROD_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
121
Total Number of Articles : 124 |
Description |
proline dehydrogenase 1 |
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, Aug 2010] |
synonyms |
|
Properties | |