Fgfr3 - fibroblast growth factor receptor 3 Gene

中文名称：成纤维细胞生长因子受体 3

种属: Mus musculus

同用名: FR3; Mfr3; sam3; CD333; Flg-2; HBGFR; Fgfr-3

关于 Fgfr3

功能概要

该基因编码成纤维细胞生长因子受体家族的一个成员。该家族的成员是高度保守的蛋白质，它们在配体亲和力和组织分布方面彼此不同。一个代表性的蛋白质由一个由三个免疫球蛋白样结构域组成的细胞外区域、一个疏水性跨膜片段和一个细胞质酪氨酸激酶结构域组成。蛋白质的细胞外部分与成纤维细胞生长因子相互作用，启动一系列下游信号，最终影响有丝分裂发生和分化。该家族成员结合酸性和碱性成纤维细胞生长激素，并在骨骼发育和维持中发挥作用。该基因的突变可能与颅缝早闭和多种类型的骨骼发育不良有关。该基因的假基因位于 1 号染色体上。已观察到该基因编码多种亚型的可变剪接转录物变体。 [RefSeq 提供，2011 年 4 月]

This gene encodes a member of the Fibroblast Growth Factor receptor family. Members of this family are highly conserved proteins that differ from one another in their ligand affinities and tissue distribution. A representative protein consists of an extracellular region composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment, and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene may be associated with craniosynostosis and multiple types of skeletal dysplasia. A pseudogene of this gene is located on chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011]