Article
Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy.
PloS one - 1 Jan 2015
Sapio Matthew R, Vessaz Monique, Thomas Pierre, Genton Pierre, Fricker Lloyd D, Salzmann Annick
Abstract excerpt
Carboxypeptidase A6 (CPA6) is a peptidase that removes C-terminal hydrophobic amino acids from peptides and proteins. The CPA6 gene is expressed in the brains of humans and animals, with high levels of expression during development. It is translated with a prodomain (as proCPA6), which is removed before secretion. The active form of CPA6 binds tightly to the extracellular matrix (ECM) where it is thought to...
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