菜单 基因医生

该基因编码的蛋白是成纤维细胞生长因子家族的成员。FGF家族成员具有广泛的有丝分裂和细胞存活活性，并参与多种生物学过程，包括胚胎发育、细胞生长、形态发生、组织修复、肿瘤生长和侵袭。该基因位于X染色体上的一个区域，与Borjeson-Forssman-Lehmann综合征（bfls）相关，使其成为bfls家族性病例的候选基因，以及与该区域相关的X连锁精神发育迟滞的其他综合征和非特异性形式的候选基因。这种基因在5'末端的选择性剪接导致几种转录变体编码不同的亚型，具有不同的N末端。
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This gene is located in a region on chromosome X, which is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), making it a possible candidate gene for familial cases of the BFLS, and for other syndromal and nonspecific forms of X-linked mental retardation mapping to this region. Alternative splicing of this gene at the 5' end results in several transcript variants encoding different isoforms with different N-termini.