肌球蛋白7a/常染色体隐性耳聋蛋白2重组兔单抗

MYO7A

Unconventional myosin-VIIa

Interacts with PLEKHB1 (via PH domain). Might homodimerize in a two headed molecule through the formation of a coiled-coil rod. Binds MYRIP and WHRN.

Cytoplasm (Probable). Note=In the photoreceptor cells, mainly localized in the inner and base of outer segments as well as in the synaptic ending region.

Expressed in the pigment epithelium and the photoreceptor cells of the retina. Also found in kidney, liver, testis, cochlea, lymphocytes. Not expressed in brain.

Defects in MYO7A are the cause of Usher syndrome type 1B (USH1B) [MIM:276900]. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.
Defects in MYO7A are the cause of deafness autosomal recessive type 2 (DFNB2) [MIM:600060]; also called neurosensory non-syndromic recessive deafness 2 (NSRD2). DFNB2 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Defects in MYO7A are the cause of deafness autosomal dominant type 11 (DFNA11) [MIM:601317].

Contains 2 FERM domains.
Contains 5 IQ domains.
Contains 1 myosin head-like domain.
Contains 2 MyTH4 domains.
Contains 1 SH3 domain.

Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. In retina, myosin VIIa might play a role in trafficking of ribbon-synaptic vesicle complexes and renewal of the outer photoreceptors disks. In inner ear, it might maintain the rigidity of stereocilia during the dynamic movements of the bundle. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity.