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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]
[中文简述(自动翻译):]  的范可尼贫血互补组(FANC)目前包括FANCA,FANCB,FANCC,FANCD1(也称为BRCA2),FANCD2,FANCE,FANCF,FANCG,科特迪瓦国民军,FANCJ(也称为BRIP1),FANCL,FANCM和FANCN(也叫PALB2)。先前定义的基团FANCH相同FANCA。范可尼贫血是一种遗传异质性隐性疾病的特点是细胞遗传不稳定,过敏DNA交联剂,增加染色体断裂,和有缺陷的DNA修复。在范可尼贫血互补组不共享序列相似的成员;它们由它们的装配相关成一个共同的核蛋白复合物。该基因编码的蛋白质的用于沿两个转录互补组一选择性剪接的结果变体编码不同同种型。 [由RefSeq的,2008年7月提供]
FANCI基因(以及对应的蛋白质)的细胞分布位置:
FANCI基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
FANCONI ANEMIA, COMPLEMENTATION GROUP I | 0.24 | 0 | 3 | CLINVAR_CTD_human |
Fanconi Anemia | 0.135511913 | 18 | 0 | BeFree_LHGDN_ORPHANET |
IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
Peripheral Neuropathy | 0.12 | 1 | 0 | CTD_human |
Malignant neoplasm of breast | 0.004734064 | 2 | 0 | GAD |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | 0.004614512 | 17 | 0 | BeFree |
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