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FANCL基因突变与药物因子介绍

2022.7.26

这个基因编码泛素连接酶,它是范科尼贫血互补组(FANC)的成员。这一组的成员通过组装成一个共同的核蛋白复合物而不是通过序列相似性来联系。该基因编码互补群L的蛋白,该蛋白介导FANCD2和FANCI的单泛素化。范科尼贫血是一种遗传异质性隐性疾病,其特征是细胞遗传不稳定、对dna交联剂过敏、染色体断裂增加和dna修复缺陷。选择性剪接导致多个转录变体。[由RefSeq提供,2018年5月]
This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2018]

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