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  • 發布時間:2022-08-09 15:16 原文鏈接: FANCE基因編碼功能及結構描述

    fanconi貧血互補組(fanc)目前包括fanca、fancb、fancc、fancd1(也稱為brca2)、fancd2、fance、fancf、fancg、fanci、fancj(也稱為brip1)、fancl、fancm和fancn(也稱為palb2)。先前定義的組fanch與fanca相同。范科尼貧血是一種遺傳異質性隱性疾病,其特征是細胞遺傳不穩定、對dna交聯劑過敏、染色體斷裂增加和dna修復缺陷。范科尼貧血互補組的成員不具有序列相似性;它們通過組裝成一個共同的核蛋白復合物而相互關聯。該基因編碼互補群E的蛋白質。[由RefSeq提供,2008年7月]

    The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group E. [provided by RefSeq, Jul 2008]

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