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Fibroblast growth factor receptor 1 (FGFR1) is a tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors. FGFR1 has been implicated in diverse biological processed including embryonic development, cell proliferation, differentiation, migration, and tumorigenesis. Mutations in FGFR1 gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, squamous cell lung cancer and autosomal dominant Kallmann syndrome. Alternatively spliced variants which encode different protein isoforms have been described.