靶标:
MYO7A
产品别名:
DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2; USH1B; MYO7A; myosin VIIA; myosin VIIA; unconventional myosin-VIIa; myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)); 肌球蛋白7a/常染色体隐性耳聋蛋白2;
背景信息:
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],