FGFR1

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FGFR1

A gene on chromosome 8p12 that encodes fibroblast growth factor receptor-1, 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.

Molecular pathology
FGFR1 mutations are associated with inherited syndromes (e.g., Antley-Bixler syndrome, autosomal dominant Kallmann syndrome 2, Jackson-Weiss syndrome, osteoglophonic dysplasia and Pfeiffer syndrome), as well as myeloproliferative disorders and stem cell leukaemia lymphoma syndrome.
References in periodicals archive ?
In our patient, PDGFR-A and B were found to be negative and we could not test for FGFR-1 and ETV6-LYN gene fusion.
FGFR-1 [corrected] signaling is involved in spermiogenesis and sperm capacitation.
Four genes have been identified that encode distinct high affinity ([K.sub.d] = [10.sup.-11] mol/L) receptors for FGFs, fibroblast growth factor receptor 1 (FGFR-1), FGFR-2, FGFR-3, and FGFR-4 (175).
Tambien hay informes de mutaciones del gen del receptor del factor de crecimiento de los fibroblastos (FGFR-1) lo cual conduce a agenesia de las neuronas olfatorias y secretoras de la hormona liberadora de gonadotropina, GnRH (11,13).