PRODH, Official Symbol PRODHprovided by HGNC Official Full Name proline dehydrogenase 1provided by HGNC Primary source HGNC:HGNC:9453 See related Ensembl:ENSG00000100033 Ensembl:ENSG00000277196 MIM:606810; AllianceGenome:HGNC:9453 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as POX; PIG6; HSPOX2; PRODH1; PRODH2; TP53I6 Summary 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] Expression Biased expression in small intestine (RPKM 24.9), skin (RPKM 13.7) and 11 other tissues See more Orthologs mouse all