USH1B | definition of USH1B by Medical dictionary
MYO7A (redirected from USH1B)
Notation for the gene for unconventional myosin 7A.
MYO7A A gene on chromosome 11q13.5 that encodes a protein belonging to the myosin gene superfamily of motor proteins, which is highly expressed in the retina and cochlea. It is thought to bind to membranes that are moved relative to actin filaments. MYO7A is thought to play a role in trafficking of ribbon-synaptic vesicle complexes and renewing outer photoreceptors disks; in the inner ear, it is thought to maintain the rigidity of stereocilia during the dynamic movements of the bundle.
MYO7A’s involvement in hair-cell vesicle trafficking of aminoglycosides may explain the pathogenesis of the ototoxicity seen with aminoglycosides.
References in periodicals archive
and USH1F were featured by constriction of visual field, visual disturbance with or without vestibular dysfunction caused by progressive retinitis pigmentosa [27, 28].
Moreover, PDZD7 was also shown to interact with USH1 proteins MYO7A (USH1B
), harmonin (USH1C), and SANS (USH1G) [18, 24, 25].
This nonmuscle myosin gene (formerly named USH1B
) maps to the long arm of chromosome 11 at 11q13, and both the q13 and p15.1-p14 regions share a common orthologous locus in region F of mouse chromosome 7 (Nadeau et al.
The MYO7A gene mutations have been reported as the cause of Usher syndrome type 1B (USH1B
), a syndromic deafness combined with retinitis pigmentosa and vestibular abnormalities .