FGFR2(redirected from JWS)
Also found in: Acronyms, Wikipedia.
FGFR2A gene on chromosome 10q25.3-q26 that encodes fibroblast growth factor receptor-3, which has an extracellular region composed of 3 immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. Binding of a ligand unleashes a cascade of downstream signals that impact on mitogenesis and differentiation.
FGFR3 mutations are associated with Apert syndrome, Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome, Saethre-Chotzen syndrome and syndromic craniosynostosis.