Description
Product Characteristics: 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.,CPA6,CPAH,ETL5,FEB11,Cancer,Signal Transduction,Cell Biology & Developmental Biology,Cell Adhesion,Cytoskeleton,Extracellular Matrix,Endocrine & Metabolism,Neuroscience,CPA6
Target Information: The protein encoded by this gene belongs to the family of carboxypeptidases, which catalyze the release of C-terminal amino acid, and have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Polymorphic variants and a reciprocal translocation t(6\,8)(q26\,q13) involving this gene, have been associated with Duane retraction syndrome.[provided by RefSeq, Sep 2010]