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Nat Genet. 2008 Oct;40(10):1163-5. doi: 10.1038/ng.225. Epub 2008 Aug 24.

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.

Author information

  • 1Department of Pediatrics II, Innsbruck Medical University, 6020 Innsbruck, Austria.

Abstract

Following homozygosity mapping in a single kindred, we identified nonsense and missense mutations in MYO5B, encoding type Vb myosin motor protein, in individuals with microvillus inclusion disease (MVID). MVID is characterized by lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli. In addition, mislocalization of transferrin receptor in MVID enterocytes suggests that MYO5B deficiency causes defective trafficking of apical and basolateral proteins in MVID.

PMID:
18724368
[PubMed - indexed for MEDLINE]
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