Actin-dependent motor protein with a protein kinase activity, playing an essential role in hearing (PubMed:12032315, PubMed:29880844, PubMed:34788109). Probably plays also a role in vision. Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase pattern. Involved in the elongation of actin in stereocilia tips by transporting the actin regulatory factor ESPN to the plus ends of actin filaments (PubMed:29880844, PubMed:34788109).
Deafness, autosomal recessive, 30
DFNB30
A form of non-syndromic deafness characterized by bilateral progressive hearing loss, which first affects the high frequencies. Hearing loss begins in the second decade, and by age 50 is severe in high and middle frequencies and moderate at low frequencies.
None
The disease is caused by variants affecting the gene represented in this entry.
Deafness, autosomal dominant, 90
DFNA90
A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss 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. DFNA90 is characterized by bilateral progressive hearing loss that affects all frequencies.
None
The disease is caused by variants affecting the gene represented in this entry.
In the C-terminal section; belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
In the N-terminal section; belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family.
Strongest expression in retina, retinal pigment epithelial cells, cochlea and pancreas.
Myosin-IIIa, MYO3A
Proteins
Neuroscience
186208Da
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