PRODH
Function
Converts proline to delta-1-pyrroline-5-carboxylate.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Pathway
Amino-acid degradation; L-proline degradation into L-glutamate; L-glutamate from L-proline: step 1/2.
Sequence Similarities
Belongs to the proline oxidase family.
Tissue Specificity
Expressed in lung, skeletal muscle and brain, to a lesser extent in heart and kidney, and weakly in liver, placenta and pancreas.
Cellular localization
- Mitochondrion matrix
Alternative names
PIG6, POX2, PRODH2, PRODH, Proline oxidase, Proline oxidase 2, p53-induced gene 6 protein