MYO3A (Entrez ID: 53904)

Entrez Gene ID 53904
Official Gene Symbol MYO3A (GeneCards)
Full name myosin IIIA
Location 10p12.1
Other ids Vega : OTTHUMG00000017837
MIM : 606808
HGNC : HGNC:7601
Ensembl : ENSG00000095777
Other names DFNB30
Summary 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]

Variants

Found 5 variants in this database.