|
skos:definition |
NCI: Expressed in brain, kidney, testis, and widely in fetal tissues by human FGFR3 Gene (FGFR Family), 3 alternative isoforms of highly conserved type I membrane protein Fibroblast Growth Factor Receptor 3, consisting of an acidic- and basic-FGF binding extracellular region (containing 3 Ig C2-type domains), a transmembrane segment, and a cytoplasmic tyrosine kinase domain, activate downstream signal cascades involved in mitogenesis and differentiation, as well as bone development and maintenance. FGFR3 defects cause achondroplasia, crouzon syndrome, thanatophoric dysplasia, coronal synostosis, hypochondroplasia, bladder and cervix cancers. (NCI),MSH: A fibroblast growth factor receptor that regulates CHONDROCYTE growth and CELL DIFFERENTIATION. Mutations in the gene for fibroblast growth factor receptor 3 have been associated with ACHONDROPLASIA; THANATOPHORIC DYSPLASIA and NEOPLASTIC CELL TRANSFORMATION.
|
