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]
Forensic Context
A study in rats demonstrated that non-targeted metabolomic profiling of iliopsoas muscle identified numerous differential metabolites for discriminating fatal hypothermia from hypoxia and control deaths, with machine learning models achieving high predictive accuracy [Li et al. DOI:10.1016/J.Jflm.2026.103089].