The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of large hydrophobic C-terminal amino acids. This enzyme has functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Mutations in this gene may be linked to epilepsy and febrile seizures, and a translocation t(6;8)(q26;q13) involving this gene has been associated with Duane retraction syndrome. [provided by RefSeq, May 2016]
Forensic Context
A study in mice demonstrated that the CPA6 is a hub gene for a downregulated co-expression module in specific inhibitory neuron subtypes within the medial prefrontal cortex of alcohol-dependent subjects, and this dysregulation was identified as a key transcriptomic change associated with the dependent state [Salem et al. DOI:10.1016/J.Nbd.2023.106361].