PRODH

The protein encoded by this gene is a mitochondrial proline dehydrogenase that catalyzes the first step in proline degradation. Defects in this gene are a cause of hyperprolinemia type 1 and possibly susceptibility to schizophrenia 4 (SCZD4). The gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes DiGeorge syndrome and CATCH22 syndrome. [provided by RefSeq]

Full Name

proline dehydrogenase (oxidase) 1

Function

Converts proline to delta-1-pyrroline-5-carboxylate.

Biological Process

4-hydroxyproline catabolic processManual Assertion Based On ExperimentTAS:BHF-UCL
Intrinsic apoptotic signaling pathway in response to oxidative stress1 PublicationNAS:UniProtKB
Positive regulation of cell deathManual Assertion Based On ExperimentIDA:ParkinsonsUK-UCL
Proline catabolic processTAS:Reactome
Proline catabolic process to glutamateManual Assertion Based On ExperimentIBA:GO_Central
Proline metabolic processManual Assertion Based On ExperimentTAS:ProtInc

Cellular Location

Mitochondrion matrix

Involvement in disease

Hyperprolinemia 1 (HYRPRO1):
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 intellectual disability. Association with certain forms of schizophrenia have been reported.
Schizophrenia 4 (SCZD4):
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.g. inappropriate affect), in sense of self and relationship to the external world (e.g. 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.