Description
Product Characteristics:
Myosin VI a molecular motor involved in intracellular vesicle and organelle transport, is the only Myosin motor that binds to the pointed end of Actin. This unique Myosin has only one light chain in the lever-arm domain and has highly irregular stepping with a wide range of step sizes, unlike that of other characterized Myosins. It associates with Clathrin-coated vesicles and disabled 2, indicating a role for Myosin VI in endocytosis. Mouse Myosin VI is expressed within the sensory hair cells of the cochlea. Human Myosin VI is mapped to the centromeric region of chromosome 6, a region that shows syntenic homology with the corresponding mouse chromosome 9 region, where the Snell?s Waltzer mutation is located. The behavioral effects of the mouse Snell?s Waltzer mutation are lack of responsiveness to sound, hyperactivity, head tossing and circling, due to the disorganization and fusing of stereocilia bundles within the inner ear. Defects of Myosin VI cause autosomal dominant nonsyndromic sensori-neural deafness in humans. Human Myosin VI is expressed in fetal cochlea and brain, as well as in adult brain.
Subcellular location: Cytoplasm, Nucleus, Cell membrane, Extracellular matrix
Synonyms: Deafness autosomal recessive 37, DFNA 22, DFNA22, DFNB 37, DFNB37, KIAA0389, MYO 6, Myo6, MYO6_HUMAN, Myosin 6, Myosin VI, Myosin-VI, Myosin6, MyosinVI, Unconventional myosin-6.
Target Information: This gene encodes a protein involved intracellular vesicle and organelle transport, especially in the hair cell of the inner ear. Mutations in this gene have been found in patients with non-syndromic autosomal dominant and recessive hearing loss. [provided by RefSeq, Jul 2008]