Of the more than
twenty different RTK families, five examples are
selected here: the epidermal growth factor receptor
(EGFR); insulin receptor (IR); fibroblast
growth factor receptor (FGFR) types 1, 2, and 3;
platelet-derived growth factor (PDGFR); and
RET (rearranged during transformation).
These receptors share structural features, although
they differ in function. All have a single
transmembrane domain and an intracellular tyrosine
kinase domain of slightly varied size. The
extracellular domains consist of evolutionarily
conserved motifs: cystein-rich regions, immunoglobulin
(Ig)-like domains, fibronectin repeats
in the tyrosine kinase with Ig and the EGF.
RTK mutations cause a group of important
human diseases and malformation syndromes.
The phenotypes of the mutations differ according
to the particular type of RTK involved and
the type of mutation.
Sunday, April 12, 2009
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