Automated description from the Alliance of Genome Resources (Release 7.4.0)
Enables protein domain specific binding activity. Involved in protein localization. Acts upstream of or within several processes, including inner ear development; phagolysosome assembly; and pigment granule transport. Located in several cellular components, including melanosome; photoreceptor connecting cilium; and stereocilium base. Is active in stereocilium. Is expressed in central nervous system; liver; sensory organ; and small intestine epithelium. Used to study Usher syndrome type 1 and autosomal recessive nonsyndromic deafness 2. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; Usher syndrome (multiple); auditory system disease (multiple); and congenital nystagmus. Orthologous to human MYO7A (myosin VIIA).
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