Summary
Performance
Immunogen
Application
Background
This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008],disease:Defects in MYO15A are the cause of non-syndromic sensorineural deafness autosomal recessive type 3 (DFNB3) [MIM:600316]. DFNB3 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.,function:Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Required for the arrangement of stereocilia in mature hair bundles.,similarity:Contains 1 FERM domain.,similarity:Contains 1 myosin head-like domain.,similarity:Contains 1 SH3 domain.,similarity:Contains 2 MyTH4 domains.,similarity:Contains 3 IQ domains.,subcellular location:Localizes to stereocilium tips in cochlear and vestibular hair cells.,subunit:Interacts with the third PDZ domain of WHRN which is necessary for localization of WHRN to stereocilium tips.,tissue specificity:Highly expressed in pituitary. Also expressed at lower levels in adult brain, kidney, liver, lung, pancreas, placenta and skeletal muscle. Not expressed in brain. In the pituitary, highly expressed in anterior gland cells.,
Research Area
