Entity Details

Primary name PRODH
Entity type gene
Source Source Link

Details

PrimaryID5625
RefseqGeneNG_008226
SymbolPRODH
Nameproline dehydrogenase 1
Chromosome22
Location22q11.21
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1997-10-28
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPROD_HUMAN

GO terms

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GOName
GO:0004657 proline dehydrogenase activity
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
GO:0006560 proline metabolic process
GO:0006562 proline catabolic process
GO:0008631 intrinsic apoptotic signaling pathway in response to oxidative stress
GO:0010133 proline catabolic process to glutamate
GO:0010942 positive regulation of cell death
GO:0019470 4-hydroxyproline catabolic process
GO:0043231 intracellular membrane-bounded organelle
GO:0071949 FAD binding

Diseases

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Disease IDSourceNameDescription
239500 OMIMHyperprolinemia 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 mental retardation. Association with certain forms of schizophrenia have been reported. The disease is caused by variants affecting the gene represented in this entry.
600850 OMIMSchizophrenia 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. Disease susceptibility is associated with variants affecting the gene represented in this entry.
181500 OMIMSchizophrenia (SCZD)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.

Interactions

7 interactions