MYO7A Antibody – Mouse Monoclonal

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]

MYO7A: an actin-based motor molecule with ATPase activity and a calcium sensitive calmodulin binding subunit. May play a role in trafficking of ribbon- synaptic vesicle complexes and renewal of outer photoreceptor disks. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity. Seven alternatively spliced isoforms have been described.

Protein type: Motor; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 11q13.5

Cellular Component: stereocilium; photoreceptor inner segment; photoreceptor outer segment; lysosomal membrane; cytoplasm; apical plasma membrane; melanosome; synapse; cell cortex; cytosol; photoreceptor connecting cilium

Molecular Function: actin filament binding; microfilament motor activity; calmodulin binding; protein domain specific binding; protein binding; protein homodimerization activity; spectrin binding; ADP binding; actin-dependent ATPase activity; ATP binding

Biological Process: phagolysosome formation; intracellular protein transport; eye photoreceptor cell development; sensory perception of sound; pigment granule transport; visual perception; actin filament-based movement; lysosome organization and biogenesis; metabolic process; sensory perception of light stimulus; auditory receptor cell stereocilium organization and biogenesis; equilibrioception; post-embryonic organ morphogenesis

Disease: Deafness, Autosomal Dominant 11; Deafness, Autosomal Recessive 2; Usher Syndrome, Type I