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MYO6

MIM.600970 6q13

Thursday 25 September 2003

Myosin VI is a molecular motor involved in intracellular vesicle and organelle transport. It is one of the so-called unconventional myosins.

Myosin VI is a member of a superfamily of actin-based motors with at least 18 different sub-types or classes. Myosins are best known as proteins that use ATP-hydrolysis-mediated conformational changes to move along actin filaments. Because of this property, some myosins, including myosins I, V, and VI, are thought to be transporters of vesicle or protein cargoes.

Myosin VI has been implicated in many seemingly different processes through functional studies in flies, worms and mammals. In several cases, its role is not easily explained by transport along actin. In addition, some of the biochemical and biophysical properties of myosin VI suggest other mechanisms of action.

Pathology

- germline mutations of MYO6 in progressive, postlingual sensorineural deafness linked to 6p13 (MIM.606346)

- germline mutations of MYO6 in autosomal recessive congenital profound sensorineural deafness DFNB37 (MIM.607821) (12687499)

- germline mutations of MYO6 in autosomal dominant sensorineural deafness cosegregated with familial hypertrophic cardiomyopathy (MIM.606346)

References

- Frank DJ, Noguchi T, Miller KG. Myosin VI: a structural role in actin organization important for protein and organelle localization and trafficking. Curr Opin Cell Biol. 2004 Apr;16(2):189-94. PMID: 15196563