Aliases for MYO6 Gene
External Ids for MYO6 Gene
Previous HGNC Symbols for MYO6 Gene
Previous GeneCards Identifiers for MYO6 Gene
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]
GeneCards Summary for MYO6 Gene
MYO6 (Myosin VI) is a Protein Coding gene. Diseases associated with MYO6 include Deafness, Autosomal Dominant 22 and Deafness, Autosomal Recessive 37. Among its related pathways are Vesicle-mediated transport and Delta508-CFTR traffic / ER-to-Golgi in CF. Gene Ontology (GO) annotations related to this gene include actin binding and actin filament binding. An important paralog of this gene is MYO10.
UniProtKB/Swiss-Prot Summary for MYO6 Gene
Myosins are actin-based motor molecules with ATPase activity (By similarity). Unconventional myosins serve in intracellular movements (By similarity). Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments (PubMed:10519557). Has slow rate of actin-activated ADP release due to weak ATP binding (By similarity). Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration (By similarity). Required for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway (PubMed:16507995). Appears to be involved in a very early step of clathrin-mediated endocytosis in polarized epithelial cells (PubMed:11447109). May act as a regulator of F-actin dynamics (By similarity). May play a role in transporting DAB2 from the plasma membrane to specific cellular targets (By similarity). May play a role in the extension and network organization of neurites (By similarity). Required for structural integrity of inner ear hair cells (By similarity). Modulates RNA polymerase II-dependent transcription (PubMed:16949370).