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MYO5B

MIM.606540 18q21

Friday 2 July 2010

Myosins are molecular motors that, upon interaction with actin filaments, utilize energy from ATP hydrolysis to generate mechanical force, as MYO1A (MIM.601478).

Pathology

- germline mutation in early-onset microvillus inclusion disease (MVID) (MIM.251850)

  • Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. (20186687)
  • Navajo microvillous inclusion disease is due to a mutation in MYO5B. (19006234)
  • MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. (18724368)

References

- Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. Ruemmele FM, Müller T, Schiefermeier N, Ebner HL, Lechner S, Pfaller K, Thöni CE, Goulet O, Lacaille F, Schmitz J, Colomb V, Sauvat F, Revillon Y, Canioni D, Brousse N, de Saint-Basile G, Lefebvre J, Heinz-Erian P, Enninger A, Utermann G, Hess MW, Janecke AR, Huber LA. Hum Mutat. 2010 May;31(5):544-51. PMID: 20186687

- Erickson, R. P., Larson-Thome, K., Valenzuela, R. K., Whitaker, S. E., Shub, M. D. Navajo microvillous inclusion disease is due to a mutation in MYO5B. Am. J. Med. Genet. 146A: 3117-3119, 2008. PubMed: 19006234

- Muller, T., Hess, M. W., Schiefermeier, N., Pfaller, K., Ebner, H. L., Heinz-Erian, P., Ponstingl, H., Partsch, J., Rollinghoff, B., Kohler, H., Berger, T., Lenhartz, H., and 10 others MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nature Genet. 40: 1163-1165, 2008. PubMed: 18724368