Article
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.
Human mutation - 1 May 2007
Khan Shahid Y, Ahmed Zubair M, Shabbir Muhammad I, Kitajiri Shin-ichiro, Kalsoom Saeeda, Tasneem Saba, Shayiq Sara, Ramesh Arabandi, Srisailpathy Srikumari, Khan Shaheen N, Smith Richard J H, Riazuddin Saima, Friedman Thomas B, Riazuddin Sheikh
Abstract excerpt
Ezrin, radixin, and moesin are paralogous proteins that make up the ERM family and function as cross-linkers between integral membrane proteins and actin filaments of the cytoskeleton. In the mouse, a null allele of Rdx encoding radixin is associated with hearing loss as a result of the degeneration of inner ear hair cells as well as with hyperbilirubinemia due to hepatocyte dysfunction. Two mutant alleles of RDX...
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