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. 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

Thomas Müller  1 , Michael W Hess, Natalia Schiefermeier, Kristian Pfaller, Hannes L Ebner, Peter Heinz-Erian, Hannes Ponstingl, Joachim Partsch, Barbara Röllinghoff, Henrik Köhler, Thomas Berger, Henning Lenhartz, Barbara Schlenck, Roderick J Houwen, Christopher J Taylor, Heinz Zoller, Silvia Lechner, Olivier Goulet, Gerd Utermann, Frank M Ruemmele, Lukas A Huber, Andreas R Janecke
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MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity

Thomas Müller et al. Nat Genet. 2008 Oct.

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.

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