BHE13703629
MYO6 encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. Myosin-VI consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. Myosin-VI maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
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