PRODH2 (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]

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

Catalytic activity: L-proline + acceptor = (S)-1-pyrroline-5-carboxylate + reduced acceptor. Ref.3

Cofactor: FAD. Ref.3

Pathway: Amino-acid degradation; L-proline degradation into L-glutamate; L-glutamate from L-proline: step 1/2.

Subcellular location: Mitochondrion matrix.

Tissue specificity: Expressed in lung, skeletal muscle and brain, to a lesser extent in heart and kidney, and weakly in liver, placenta and pancreas.

Induction: During p53/TP53-induced apoptosis. Ref.7

Involvement in disease: Hyperprolinemia 1 (HP-1) [MIM:239500]: Characterized by elevated serum proline levels. May be involved in the psychiatric and behavioral phenotypes associated with the 22q11 velocardiofacial and DiGeorge syndrome.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8Schizophrenia 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.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.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.9

Sequence similarities: Belongs to the proline oxidase family.

Sequence caution: The sequence AAC39529.1 differs from that shown. Reason: Frameshift at positions 540, 563, 568, 577, 580 and 582. The sequence AAH68260.1 differs from that shown. Reason: Frameshift at position 123. The sequence AAH94736.1 differs from that shown. Reason: Frameshift at position 40. The sequence AAH94736.1 differs from that shown. Reason: Artifact. Missing internal sequence that doesn't correspond to an exon-intron boundary.The sequence BAD92709.1 differs from that shown. Reason: Intron retention. Includes intronic sequence at the 5' end.