PRODH (Proline Dehydrogenase 1) is a Protein Coding gene. Diseases associated with PRODH include schizophrenia 4 and hyperprolinemia, type i. Among its related pathways are Metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. GO annotations related to this gene include FAD binding and proline dehydrogenase activity. An important paralog of this gene is PRODH2. 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.
Hyperprolinemia 1 (HYRPRO1) [MIM:239500]: An inborn error of proline metabolism resulting in elevated levels of proline in the plasma and urine. The disorder is generally benign and most affected individuals are clinically asymptomatic. Some patients, however, have neurologic manifestations, including epilepsy and mental retardation. Association with certain forms of schizophrenia have been reported. Note=The disease is caused by mutations affecting the gene represented in this entry. Schizophrenia 4 (SCZD4) [MIM:600850]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e. g. delusions, hallucinations), in mood (e. inappropriate affect), in sense of self and relationship to the external world (e. loss of ego boundaries, withdrawal), and in behavior (e. g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Proline dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the PRODH gene. Proline oxidase, or proline dehydrogenase, functions as the initiator of the proline cycle. Proline metabolism is especially important in nutrient stress because proline is readily available from the breakdown of extracellular matrix (ECM), and the degradation of proline through the proline cycle initiated by proline oxidase (PRODH), a mitochondrial inner membrane enzyme, can generate ATP. This degradative pathway generates glutamate and alpha-ketoglutarate, products that can play an anaplerotic role for the TCA cycle. The proline cycle is also in a metabolic interlock with the pentose phosphate pathway providing another bioenergetic mechanism. The induction of stress either by glucose withdrawal or by treatment with rapamycin, stimulated degradation of proline and increased PRODH catalytic activity.
Arginine and proline metabolism, organism-specific biosystem; Arginine and proline metabolism, conserved biosystem; Metabolic pathways, organism-specific biosystem; Metabolism, organism-specific biosystem; Metabolism of amino acids and derivatives, organism-specific biosystem; Proline catabolism, organism-specific biosystem; citrulline biosynthesis, conserved biosystem.