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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].
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: myosin-XV; Unconventional myosin-15; Unconventional myosin-XV
基因别名: DFNB3; MYO15; MYO15A
UniProt ID: (Human) Q9UKN7
Entrez Gene ID: (Human) 51168