Aliases for CPA6 Gene
External Ids for CPA6 Gene
Previous GeneCards Identifiers for CPA6 Gene
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]
GeneCards Summary for CPA6 Gene
CPA6 (Carboxypeptidase A6) is a Protein Coding gene. Diseases associated with CPA6 include Epilepsy, Familial Temporal Lobe, 5 and Febrile Seizures, Familial, 11. Gene Ontology (GO) annotations related to this gene include metallocarboxypeptidase activity and carboxypeptidase activity. An important paralog of this gene is CPB1.
UniProtKB/Swiss-Prot Summary for CPA6 Gene
May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May convert inactive angiotensin I into the biologically active angiotensin II (PubMed:18178555). Releases a C-terminal amino acid, with preference for large hydrophobic C-terminal amino acids and shows only very weak activity toward small amino acids and histidine (PubMed:20855895).