Gene Symbol | MYO6 |
Entrez Gene ID | 4646 |
Full Name | myosin VI |
Synonyms | DFNA22,DFNB37,Myo6-007,Myo6-008 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene 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. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein 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. [provided by RefSeq, Jul 2014]. |
Disorder MIM: | |
Disorder Html: | Deafness, autosomal dominant 22, 606346 (3); Deafness, autosomal recessive 37, 607821 (3); Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3) |