Fgfr1 - fibroblast growth factor receptor 1 Gene

中文名称：成纤维细胞生长因子受体 1

种属: Mus musculus

同用名: FLG; Fr1; MFR; Eask; Hspy; Flt-2; c-fgr; FGFR-I; Fgfr-1; bFGF-R-1

关于 Fgfr1

功能概要

该基因编码的蛋白可启动 SH2 域绑定活动；成纤维细胞生长因子结合活性；和成纤维细胞生长因子激活受体活性。参与前脑发育； RNA 聚合酶 II 对转录的负调控；和细胞周期的正向调节。作用于多个过程的上游或内部，包括动物器官发育；细胞群增殖的正向调节；和动物器官形态发生的调节。位于质膜。以多种结构表达，包括消化系统；中枢神经系统;胚胎间充质；泌尿生殖系统；和感觉器官。用于研究 Pfeiffer 综合症和中耳炎。该基因的人类直系同源基因与多种疾病有关，包括 Jackson-Weiss 综合征；骨病（多发）；唇裂;血液系统癌症（多发性）；和低促性腺激素性腺功能减退症（多个）。与人 FGFR1（成纤维细胞生长因子受体 1）同源。 [由基因组资源联盟提供，2022 年 4 月]

Enables SH2 domain binding activity; Fibroblast Growth Factor binding activity; and fibroblast growth factor-activated receptor activity. Involved in forebrain development; negative regulation of transcription by RNA polymerase II; and positive regulation of cell cycle. Acts upstream of or within several processes, including animal organ development; positive regulation of cell population proliferation; and regulation of animal organ morphogenesis. Located in plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and sensory organ. Used to study Pfeiffer syndrome and otitis media. Human ortholog(s) of this gene implicated in several diseases, including Jackson-Weiss syndrome; bone disease (multiple); cleft lip; hematologic Cancer (multiple); and hypogonadotropic hypogonadism (multiple). Orthologous to human FGFR1 (Fibroblast Growth Factor receptor 1). [provided by Alliance of Genome Resources, Apr 2022]