Essay heading: Achondroplasia

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Science

 

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December 16, 1996

 

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The function of the normal gene product contains an extracellular region, composed of three immunoglobulin domains, a hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain (2). These allow normal interactions between fibroblasts resulting in normal bone growth. With a glycine in the place of an argenine, the conformation changes, so the protein does not span the membrane as many times, causing different interactions between fibroblasts, ultimately resulting in abnormal bone growth...
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With a glycine in the place of an argenine, the conformation changes, so the protein does not span the membrane as many times, causing different interactions between fibroblasts, ultimately resulting in abnormal bone growth. The FGFR3 gene is most highly conserved among mammals, especially Homo Sapiens (humans), Pan Troglodytes (chimpanzees), and Mus Musculus (mice)...
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