Article
The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.
Human molecular genetics - 1 Feb 2009
Dimitrov Ariane, Paupe Vincent, Gueudry Charles, Sibarita Jean-Baptiste, Raposo Graça, Vielemeyer Ole, Gilbert Thierry, Csaba Zsolt, Attie-Bitach Tania, Cormier-Daire Valérie, Gressens Pierre, Rustin Pierre, Perez Franck, El Ghouzzi Vincent
Abstract excerpt
Dyggve-Melchior-Clausen dysplasia (DMC) is a rare inherited dwarfism with severe mental retardation due to mutations in the DYM gene which encodes Dymeclin, a 669-amino acid protein of yet unknown function. Despite a high conservation across species and several predicted transmembrane domains, Dymeclin could not be ascribed to any family of proteins. Here we show, using in situ hybridization, that DYM is widely...
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