Reactome: A Curated Pathway Database

FGFR1 mutant receptor activation (R-HSA-1839124)

Species Homo sapiens

Summation

The FGFR1 gene has been shown to be subject to activating mutations, chromosomal rearrangements and gene amplification leading to a variety of proliferative and developmental disorders depending on whether these events occur in the germline or arise somatically (reviewed in Webster and Donoghue, 1997; Burke, 1998; Cunningham, 2007; Wesche, 2011; Greulich and Pollock, 2011). Many of the resulting mutant FGFR1 proteins can dimerize and promote signaling in a ligand-independent fashion, although signal transduction may still be amplified in the presence of ligand (reviewed in Turner and Gross, 2010; Greulich and Pollock, 2011; Wesche et al, 2011).

Locations in the PathwayBrowser
Additional Information
Compartment plasma membrane , cytosol , extracellular region
Diseases
Name Identifier Synonyms
cancer 162 [malignant tumor, malignant neoplasm, primary cancer]
bone development disease 0080006