MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity by Müller Thomas, Hess Michael W, Schiefermeier Natalia, Pfaller Kristian, Ebner Hannes L, Heinz-Erian Peter, Ponstingl Hannes, Partsch Joachim, Röllinghoff Barbara, Köhler Henrik, Berger Thomas, Lenhartz Henning, Schlenck Barbara, Houwen Roderick J, Taylor Christopher J, Zoller Heinz, Lechner Silvia, Goulet Olivier, Utermann Gerd, Ruemmele Frank M, Huber Lukas A, Janecke Andreas R in Nature genetics (2008).

[PMID: 18724368] PubMed


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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