Description
Product Characteristics:
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).
Subcellular location: Cytoplasm
Synonyms: POX, PIG6, HSPOX2, PRODH1, PRODH2, TP53I6, Proline dehydrogenase 1, mitochondrial, Proline oxidase, Proline oxidase 2, p53-induced gene 6 protein, PRODH, POX2
Target Information: 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]