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gene: MYO6

id4646
symbolMYO6
organismHomo sapiens
full namemyosin VI
summaryThis 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]
variant-disease

NM_004999.4(MYO6):c.3496C>T (p.Arg1166Ter) AND Deafness, autosomal recessive 37

NM_004999.4(MYO6):c.1120T>C (p.Tyr374His) AND not specified

NM_004999.4(MYO6):c.1212A>G (p.Gly404=) AND not specified

NM_004999.4(MYO6):c.1722C>T (p.Asp574=) AND not specified

NM_004999.4(MYO6):c.2658+17C>T AND not specified

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