FGFR3是成纤维细胞生长因子受体(fibroblast growth factor receptors,FGFRs)家族成员之一,在骨骼发育中起重要作用。FGFR3的激活突变引起一系列骨骼发育缺陷性疾病,如软骨发育不全(aehondroplasia,ACH)、季肋发育不全(hypochondroplasia,HCH)和致死性骨发育不全(thanatophoric dysplasia,TD)。目前研究认为,FGFR3在骨骼发育中抑制软骨形成的作用是明确的,但其对骨形成的作用尚不明确,需要进一步研究。
Fibroblast growth factor receptors 3(FGFR3) is one of the family of 4 membrane bound receptor tyrosine kinases (FGFR1-4) that mediate signals of at least 22 Fibroblast growth factors (FGF1-22), which plays an important role in skeleton development and diseases. The chondrodysplasia :syndromes including hypochondroplasia (HCH), achondroplasia (ACH), and thanatophoric dysplasia (TD) are caused by gain-of-function mutations in FG- FR3, and their major skeletal defects are found in long bone formed through cndochondral ossification. Studies show that FGFR3 can inhibit chondrogenesis , but people still don't know its effect on bone formation clearly.