PRODH (NP_057419, 441 a.a. ~ 540 a.a) partial recombinant protein with GST tag. The sequence is LVRGAYLAQERARAAEIGYEDPINPTYEATNAMYHRCLDYVLEELKHNAKAKVMVASHNE DTVRFALRRMEELGLHPADHRVYFGQLLGMCDQISFPLGQ
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.
Pathway
Arginine and proline metabolism; Metabolism; Proline catabolism; proline degradation
Citations
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