rs7073084

This variant is located in the MYO3A gene.

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ClinVar annotation

Likely Benign★★★☆

2 submitters1 publication

not provided; Hearing loss, autosomal recessive

About MYO3A

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]

View all MYO3A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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