MYO3A gene

myosin IIIA

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal recessive 30

From UniProt:

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. [MIM:607101]

Cytogenetic Location: 10p11.1, which is the short (p) arm of chromosome 10 at position 11.1

Molecular Location: base pairs 25,934,073 to 26,212,536 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10p11.1, which is the short (p) arm of chromosome 10 at position 11.1
  • DFNB30