MYO7A Polyclonal Antibody

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.

Deafness autosomal dominant 11, Deafness autosomal recessive 2, DFNA11, DFNB 2, DFNB2, Myo7a, Myosin 7a, Myosin VIIA (Usher syndrome 1B (autosomal recessive, severe) ), Myosin VIIa, Myosin, unconventional, family VII, member A, MYOVIIA, MYU7A, NSRD 2, NSRD2, Unconventional