Fanconi anaemia, complementation group A, also known as FAA, FACA and FANCA, is a protein which in humans is encoded by the FANCA gene. [5] It belongs to the Fanconi anaemia …

2025年3月30日 · FANCA (FA Complementation Group A) is a Protein Coding gene. Diseases associated with FANCA include Fanconi Anemia, Complementation Group A and Pituitary …

A number sign (#) is used with this entry because Fanconi anemia of complementation group A (FANCA) is caused by homozygous or compound heterozygous mutation in the FANCA gene …

Fanconi贫血互补群A的遗传方式为常染色体隐性遗传（AR），致病基因为FANCA 。FANCA位于16q24.3，基因全长约79Kb，含44个外显子，其编码的蛋白属于FA核蛋白复合体的组成成 …

2011年4月7日 · To investigate the origin, functional role, and clinical impact of FANCA mutations, we determined a FANCA mutational spectrum with 130 pathogenic alleles. Some of these …

Mutant FANCA proteins complement the sensitivity of DNA crosslinker mitomycin C at different grades: five proteins (group I) behave like wild-type FANCA, whereas the other proteins are …

fanca基因编码的蛋白质是范科尼贫血互补组（fanc）的关键成员，其结构可能涉及多个亚型的转录变体。 虽然FANCA直接参与的特定信号通路尚不完全明确，但它在DNA损伤修复和维持基因 …

The FANCA gene provides instructions for making a protein that is involved in a process known as the Fanconi anemia (FA) pathway. The FA pathway turns on (activates) when the process …

范科尼贫血（fa）是常染色体或x连锁隐性遗传性骨髓衰竭性疾病，fa相关基因突变或缺失，导致dna损伤后修复调节以及dna链间交联修复等多个过程异常而致病，最常见的突变基因包 …

2025年1月4日 · The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, …