77779193永利-yl23455永利

    Background:  

    The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino

    acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from 

    one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an 

    extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning

    segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast 

    growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation.      This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. 

    Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome,

    osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosoma