Reactome: A Curated Pathway Database

Signaling by activated point mutants of FGFR3

Stable Identifier
R-HSA-1839130
Type
Pathway
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
Summation

Activating point mutations in FGFR3 are found in the extracellular ligand-binding domain, the transmembrane region and the tyrosine kinase domain and are believed to result in ligand-independent activation of the receptor (Webster and Donoghue, 1996; Wenbster, 1997). These mutations, although initially characterized in the context of autosomal skeletal disorders, are now being identified in a range of cancers including bladder, cervical, breast, prostate, head and neck, and multiple myeloma (reviewed in Wesche, 2011).

Literature References
Participants
Participant Of
Disease
Diseases
Name Identifier Synonyms
bone development disease 0080006
cancer 162 malignant tumor, malignant neoplasm, primary cancer