MYO7A
MYO7A is a human gene that encodes myosin VIIA, an unconventional actin-based motor protein in the myosin superfamily. It converts chemical energy from ATP hydrolysis into mechanical work to move cellular cargo along actin filaments. The protein has a typical motor domain at the N-terminus, a neck region, and a large C-terminal tail with cargo-binding motifs, enabling interactions with various adaptor proteins and organelles.
MYO7A is expressed in several tissues but is particularly abundant in the inner ear and retinal pigment
Mutations in MYO7A cause Usher syndrome type 1B, a syndromic form characterized by congenital sensorineural deafness,
Research using animal models, such as shaker-1 mice, has illuminated MYO7A’s roles in sensory cells. Gene therapy