Ontology highlight
ABSTRACT:
SUBMITTER: Marsh APL
PROVIDER: S-EPMC5722687 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Marsh Ashley P L APL Edwards Timothy J TJ Galea Charles C Cooper Helen M HM Engle Elizabeth C EC Jamuar Saumya S SS Méneret Aurélie A Moutard Marie-Laure ML Nava Caroline C Rastetter Agnès A Robinson Gail G Rouleau Guy G Roze Emmanuel E Spencer-Smith Megan M Trouillard Oriane O Billette de Villemeur Thierry T Walsh Christopher A CA Yu Timothy W TW Heron Delphine D Sherr Elliott H EH Richards Linda J LJ Depienne Christel C Leventer Richard J RJ Lockhart Paul J PJ
Human mutation 20171111 1
The deleted in colorectal cancer (DCC) gene encodes the netrin-1 (NTN1) receptor DCC, a transmembrane protein required for the guidance of commissural axons. Germline DCC mutations disrupt the development of predominantly commissural tracts in the central nervous system (CNS) and cause a spectrum of neurological disorders. Monoallelic, missense, and predicted loss-of-function DCC mutations cause congenital mirror movements, isolated agenesis of the corpus callosum (ACC), or both. Biallelic, pred ...[more]