Aliases for MYO7A Gene
External Ids for MYO7A Gene
Previous HGNC Symbols for MYO7A Gene
Previous GeneCards Identifiers for MYO7A Gene
This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
GeneCards Summary for MYO7A Gene
MYO7A (Myosin VIIA) is a Protein Coding gene. Diseases associated with MYO7A include Usher Syndrome, Type I and Deafness, Autosomal Recessive 2. Among its related pathways are ERK Signaling and Actin Nucleation by ARP-WASP Complex. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein domain specific binding. An important paralog of this gene is MYO7B.
UniProtKB/Swiss-Prot for MYO7A Gene
Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity (By similarity). Motor protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.