External Ids for MYO15A Gene
Previous HGNC Symbols for MYO15A Gene
Previous GeneCards Identifiers for MYO15A Gene
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]
GeneCards Summary for MYO15A Gene
MYO15A (Myosin XVA) is a Protein Coding gene. Diseases associated with MYO15A include deafness, autosomal recessive 3 and dfnb 3 nonsyndromic hearing loss and deafness. Among its related pathways are Integrin Pathway and ERK Signaling. GO annotations related to this gene include actin binding and motor activity. An important paralog of this gene is MYO7B.
UniProtKB/Swiss-Prot for MYO15A Gene
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 (By similarity).