菜单 基因医生

Fanconi贫血互补组（FANC）目前包括Fanca、Fancb、Fancc、Fancd1（也称为brca2）、Fancd2、Fance、Fancf、Fancg、Fanci、Fancj（也称为brip1）、Fancl、Fancm和Fancn（也称为palb2）。先前定义的组fanch与fanca相同。范科尼贫血是一种遗传异质性隐性疾病，以细胞遗传学不稳定、对DNA交联剂过敏、染色体断裂增加和DNA修复缺陷为特征。范科尼贫血互补组的成员不具有序列相似性，它们通过组装成一个共同的核蛋白复合物而相互关联。这个基因编码互补组C的蛋白质。
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 C.