The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016]
Forensic Context
A study in mice demonstrated that the PMPCA was downregulated in the ileum of methamphetamine-treated animals compared to saline-treated controls, identifying it as a differentially expressed gene associated with inflammatory bowel disease pathogenesis in this model [Sun et al. DOI:10.21037/Atm-20-7741].