Article
The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells.
Human molecular genetics - 22 Jul 2000
Anderson D W, Probst F J, Belyantseva I A, Fridell R A, Beyer L, Martin D M, Wu D, Kachar B, Friedman T B, Raphael Y, Camper S A
Abstract excerpt
Recessive mutations in myosin 15, a class XV unconventional myosin, cause profound congenital deafness in humans and both deafness and vestibular dysfunction in mice homozygous for the shaker 2 and shaker 2(J) alleles. The shaker 2 allele is a previously described missense mutation of a highly conserved residue in the motor domain of myosin XV. The shaker 2(J) lesion, in contrast, is a 14.7 kb deletion that...
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