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Molecular Characterization Of The Putative Nucleotide- Binding And Hydrolyzing Activities Of The Ellis Van Creveld (Evc) Protein, Giang Nguyen
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Ellis–van Creveld (EvC) syndrome is a rare autosomal recessive disorder that is characterized by short-limb dwarfism, extra fingers or toes, malformed teeth and nails, and congenital heart defects. Mutations in two genes, EVC and EVC2, which are located on chromosome 4, have been shown to be responsible for EvC syndrome. The protein products of these genes, EVC and EVC2 physically interact and together, they are tethered to the base of the primary cilium of cells. This multi-protein assembly positively regulates the Sonic and Indian hedgehog signaling pathways by promoting downstream processes after activation of the smoothened receptor (Smo), by the …