PRODH Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Aug 2010]

PRODH: Converts proline to delta-1-pyrroline-5-carboxylate. Defects in PRODH are the cause of hyperprolinemia type 1 (HP-1). HP-1 is a disorder characterized by elevated serum proline levels. May be involved in the psychiatric and behavioral phenotypes associated with the 22q11 velocardiofacial and DiGeorge syndrome. Defects in PRODH are associated with susceptibility to schizophrenia type 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. Belongs to the proline oxidase family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Amino Acid Metabolism - arginine and proline; EC 1.5.5.2; Mitochondrial; Oxidoreductase

Chromosomal Location of Human Ortholog: 22q11.21

Cellular Component: mitochondrial inner membrane; mitochondrion

Molecular Function: proline dehydrogenase activity

Biological Process: 4-hydroxyproline catabolic process; proline catabolic process; proline catabolic process to glutamate; proline metabolic process

Disease: Hyperprolinemia, Type I; Schizophrenia 4