MYO3A

Chr 10ADAR

myosin IIIA

Also known as: DFNA90, DFNB30

NCBI Gene: 53904 ENSG00000095777 UniProt: Q8NEV4 OMIM: 606808

This actin-dependent motor protein with kinase activity is essential for cochlear hair bundle development and hearing, transporting actin regulatory factors to stereocilia tips and contributing to the characteristic staircase architecture of auditory hair bundles. Mutations cause nonsyndromic hearing loss with both autosomal dominant and autosomal recessive inheritance patterns. The gene shows very low constraint against loss-of-function variants and is highly expressed in the retina and cochlea.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…