Publication

Absence of cell-surface EpCAM in congenital tufting enteropathy

Schnell, U., Kuipers, J., Mueller, J. L., Veenstra-Algra, A., Sivagnanam, M. & Giepmans, B. N. G., 1-Jul-2013, In : Human Molecular Genetics. 22, 13, p. 2566-2571 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

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.

Original languageEnglish
Pages (from-to)2566-2571
Number of pages6
JournalHuman Molecular Genetics
Volume22
Issue number13
Publication statusPublished - 1-Jul-2013

    Keywords

  • ANTIGEN EP-CAM, GENE, IDENTIFICATION, PROGRESSION, CLAUDIN-7, ADHESION, MUTATION, MARKER, CANCER, KSA

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