菜单 基因医生

该基因编码的蛋白是成纤维细胞生长因子(fgf)家族的一员。fgf家族成员具有广泛的有丝分裂和细胞存活活性,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、肿瘤生长和侵袭等。这种生长因子缺乏存在于fgf家族大多数成员中的n-末端信号序列,但它含有已被证明作为核定位信号的碱基残基簇。当转染到哺乳动物细胞中时,这种蛋白质在细胞核中积累,但不分泌。这个基因的具体功能尚未确定。报道了两种编码不同亚型的选择性剪接转录变体。[由RefSeq提供,2008年7月]
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 growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

基因名:FGF12
别名:FHF1,EIEE47,FGF12B
基因ID:2257
Chromosome:
(GRCh37)
3 Start: 191857033 End: 192445388 Strand: 
信号通路:  
FGF12 基因突变与药物