MYO5B
MIM.606540 18q21
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#