Article
Missense polymorphism in the human carboxypeptidase E gene alters enzymatic activity.
Human mutation - 1 Aug 2001
Chen H, Jawahar S, Qian Y, Duong Q, Chan G, Parker A, Meyer J M, Moore K J, Chayen S, Gross D J, Glaser B, Permutt M A, Fricker L D
Abstract excerpt
Carboxypeptidase E (CPE) is involved in the biosynthesis of peptide hormones and neurotransmitters, including insulin. One of the features of type 2 diabetes mellitus (T2DM) is an elevation in the proinsulin level and/or proinsulin/insulin molar ratio, suggesting that mutations in proinsulin processing enzymes may contribute to the development of T2DM. We scanned CPE for mutations in a collection of Ashkenazi...
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