菜单 基因医生

该基因编码的F盒蛋白家族的成员，其特征在于约40个氨基酸基序，F盒。F-box蛋白是泛素蛋白连接酶复合物SCFs（SKP1-cullin-F-box）的四个亚基之一，在磷酸化依赖性泛素化中发挥作用f-box蛋白分为3类：含wd-40结构域的fbws、含富含亮氨酸重复序列的fbls和含不同蛋白相互作用模块或无可识别基序的fbxs。这个基因编码的蛋白质属于Fbxs类它可以作为一种精氨酸甲基转移酶，对称地使精氨酸残基发生二甲基化，并作为一种衔接蛋白介导p53的neddylation，从而导致p53功能的抑制已知该基因在白癜风患者的黑色素细胞中下调，白癜风是一种导致色素脱失的皮肤疾病该基因多态性与慢性中耳炎伴积液和复发性中耳炎（come/rom）有关，是一种听力损失障碍，同源小鼠基因的敲除导致耳聋小鼠突变株jeff（jf），一种中耳炎单基因模型。另外，编码不同亚型的剪接转录变体已经被鉴定为该基因[由RefSeq提供，2010年6月]
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It can function as an arginine methyltransferase that symmetrically dimethylates arginine residues, and it acts as an adaptor protein to mediate the neddylation of p53, which leads to the suppression of p53 function. This gene is known to be down-regulated in melanocytes from patients with vitiligo, a skin disorder that results in depigmentation. Polymorphisms in this gene are associated with chronic otitis media with effusion and recurrent otitis media (COME/ROM), a hearing loss disorder, and the knockout of the homologous mouse gene results in the deaf mouse mutant Jeff (Jf), a single gene model of otitis media. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]