Entrez gene ID | | 4647 |
Official gene symbol | | MYO7A |
Full name | | myosin VIIA |
Aliases | | ,DFNA11,DFNB2,MYOVIIA,MYU7A,NSRD2,USH1B, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 11 Locus: 11q13.5 |
Gene position | | 76839310 - 76926286 Map Viewer |
Gene orientation | | plus |
Gene size | | 86977 bp |
Gene sequence |
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OMIM ID | | 276903 |
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