Gene Symbol | MYO7A |
Entrez Gene ID | 4647 |
Full Name | myosin VIIA |
Synonyms | DFNA11,DFNB2,MYOVIIA,MYU7A,NSRD2,USH1B |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Usher syndrome, type 1B, 276900 (3); Deafness, autosomal recessive 2, 600060 (3); Deafness, autosomal dominant 11, 601317 (3) |