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,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。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。该基因编码互补组i的蛋白质。选择性剪接导致两个转录变体编码不同的亚型。[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 I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

基因名:FANCI
别名:KIAA1794
基因ID:55215
Chromosome:
(GRCh37)
15 Start: 89785634 End: 89860362 Strand: 
信号通路: 细胞增殖  基因组不稳定 
FANCI 基因突变与药物