FBXL7基因突变与药物因子介绍
该基因编码F-box蛋白家族的一个成员，其特征是42-48个氨基酸基序，F-box与S相激酶相关蛋白1（Skp1）蛋白结合F-box蛋白是E3泛素蛋白连接酶SCFs（SKP1-Cul1-F-box）的四个亚基之一，在蛋白质磷酸化依赖泛素化中起作用根据蛋白质中的另一个结构域，f-box蛋白质被分为3个亚家族：同样具有wd-40结构域（fbws亚家族）的f-box蛋白质、同样具有富含亮氨酸重复序列（fbls亚家族）的f-box蛋白质和包含其他基序或缺乏已知蛋白质相互作用结构域（fbxs亚家族）的f-box蛋白质。该基因编码的蛋白属于Fbls亚家族选择性剪接导致该基因的多个转录变体[由RefSeq提供，2013年5月]
This gene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
