This page was produced as an assignment for Genetics 677 at UW-Madison, Spring 2010
FGFR3 protein
3-D structure from SWISS-MODEL
FGFR3 is a membrane spanning protein characterized by three portions: an extra-cellular portion to which a ligand binds, a hydrophobic membrane spanning portion, and the inner-cellular tyrosine kinase. The mutation that causes achondroplasia is found within the transmembrane portion. [1]
References [1] Bocian, M., Church, D.M., Fielder T.J., Shiang, R., Thompson, L.M., Wasmuth, J.J., Winokur, S.T., and Zhu, Y. (1994) Mutations in the Transmembrane Domain of FGFR3 Cause the Most Common Genetic Form of Dwarfism, Achondroplasia. Cell, Vol. 78, 335-342. doi:10.1016/0092-8674(94)90302-6