Recombinant Human Unconventional myosin-VIIa (MYO7A), Truncated

Uniprot Id

Q13402

Target Species

Human

Target Name

MYO7A

Target Full Name

Unconventional myosin-VIIa

Target Function

Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity. Motor protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.

Target Involvement

Usher syndrome 1B (USH1B); Deafness, autosomal recessive, 2 (DFNB2); Deafness, autosomal dominant, 11 (DFNA11)

Target Subcellular Location

Cytoplasm. Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Cell junction, synapse.

Target Protein Families

TRAFAC class myosin-kinesin ATPase superfamily, Myosin family

Target Tissue Specificity

Expressed in the pigment epithelium and the photoreceptor cells of the retina. Also found in kidney, liver, testis, cochlea, lymphocytes. Not expressed in brain.

Target Research Area

Signal Transduction

Target Synonyms

MYO7A; USH1B; Unconventional myosin-VIIa

Target Background

This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants.