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FLASH GENE
Symbol FGFRL1 contributors: npt/ - updated : 21-09-2007
HGNC name fibroblast growth factor receptor-like 1
HGNC id 3693
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • signal peptide
  • three extracellular Ig-like domains that were related to the members of the fibroblast growth factor (FGF) receptor family
  • a transmembrane segment (TM) and a short intracellular domain
  • HOMOLOGY
    interspecies homolog to murien FgfrL1
    Homologene
    FAMILY
  • fibroblast growth factor receptor family
  • CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    text integral membrane protein
    basic FUNCTION
  • modulator of FGF receptor activity during chondrocyte differentiation and enchondral ossication
  • acting as a decoy receptor for FGF ligands
  • involved in the control of cell proliferation and differentiation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with other Fgfrs, which are expressed in cartilage and muscle, to modulate FGF signaling
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    aberrant expression might contribute to the development and progression of ovarian tumors
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • for facial features in WHS
  • candidate gene for the diaphragmatic defects
  • Marker
    Therapy target
    ANIMAL & CELL MODELS
    Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm (Lopez Jimenez 2010)