期刊
HUMAN MOLECULAR GENETICS
卷 22, 期 13, 页码 2566-2571出版社
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddt105
关键词
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资金
- Groningen University Graduate School of Medical Sciences
- Marie Curie International Reintegration Grant within the 7th European Community Framework Program
- J.K. De Cock Stichting
- Netherlands Organisation for Scientific Research (NWO) [40-00506-98-9021, 175-010-2009-023]
- National Institute of Health [K08 DK078672-01A1]
Mutations in the epithelial cell adhesion molecule (EpCAM; CD326) gene are causal for congenital tufting enteropathy (CTE), a disease characterized by intestinal abnormalities resulting in lethal diarrhea in newborns. Why the different mutations all lead to the same disease is not clear. Here, we report that most mutations, including a novel intronic variant, will result in lack of EpCAMs transmembrane domain, whereas two mutations allow transmembrane localization. We find that these mutants are not routed to the plasma membrane, and that truncated mutants are secreted or degraded. Thus, all epcam mutations lead to loss of cell-surface EpCAM, resulting in CTE.
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