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Rabbit Anti-PRODH/FITC Conjugated antibody
background:
Proline oxidase catalyzes the conversion of proline to pyrroline-5-carboxylate, or P5C during the degradation of the amino acid Proline. Defects in PRODH are the cause of hyperprolinemia type 1, a disorder characterized by elevated serum proline levels. Defective PRODH may be involved in the psychiatric and behavioral phenotypes associated with the 22q11 velocardiofacial and DiGeorge syndrome and may be associated with susceptibility to schizophrenia 4 (SCZD4).
Function:
Converts proline to delta-1-pyrroline-5-carboxylate.
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.
DISEASE:
Defects in PRODH are the cause of hyperprolinemia type 1 (HP-1) [MIM:239500]. 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) [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.
Similarity:
Belongs to the proline oxidase family.
Database links:
Entrez Gene: 5625 Human
Entrez Gene: 19125 Mouse
Entrez Gene: 136409 Rat
Omim: 606810 Human
SwissProt: O43272 Human
SwissProt: Q9WU79 Mouse
Unigene: 517352 Human
Unigene: 28456 Mouse
Unigene: 153570 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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