{"symbol":"PRODH","synonyms":["HSPOX2","PRODH1","TP53I6","POX","PRODH2","PIG6"],"name":"proline dehydrogenase (oxidase) 1","description":"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]","ncbiEntrezGeneId":5625,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5625","proteins":[{"symbol":"PROD_HUMAN","href":"/api/1.0/protein/PROD_HUMAN"}],"hgncRootFamilies":[]}