Article
Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia.
The Journal of biological chemistry - 4 Jul 2003
Rees Mark I, Harvey Kirsten, Ward Hamish, White Julia H, Evans Luc, Duguid Ian C, Hsu Cynthia C-H, Coleman Sharon L, Miller Jan, Baer Kristin, Waldvogel Henry J, Gibbon Francis, Smart Trevor G, Owen Michael J, Harvey Robert J, Snell Russell G
Abstract excerpt
Gephyrin (GPHN) is an organizational protein that clusters and localizes the inhibitory glycine (GlyR) and GABAA receptors to the microtubular matrix of the neuronal postsynaptic membrane. Mice deficient in gephyrin develop a hereditary molybdenum cofactor deficiency and a neurological phenotype that mimics startle disease (hyperekplexia). This neuromotor disorder is associated with mutations in the GlyR alpha1...
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