2024年12月25日 · FANCC (FA Complementation Group C) is a Protein Coding gene. Diseases associated with FANCC include Fanconi Anemia, Complementation Group C and Fanconi Anemia, Complementation Group A. Among its related pathways are Gene expression (Transcription) and Antiviral mechanism by IFN-stimulated genes.

The FANCC 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 of making new copies of DNA, called DNA replication, is blocked due to DNA damage.

Fanconi anemia, complementation group C (FANCC) is a gene that encodes a protein that is a member of the Fanconi anemia complementation group. The protein complex functions in the heterogeneous recessive disorder Fanconi anemia that causes cytogenetic instability, hypersensitivity to DNA crosslinking agents, increases chromosomal breakage, and ...

范科尼贫血（fanconi anemia，FA）是最常见的遗传性骨髓衰竭性疾病，是染色体不稳定综合征的主要类型之一。 在不同种族、不同地区发病率有所不同。 在亚洲人群中发病率为1/160 000，男女发病比例约1.2∶1 [ 1 ]。 FA主要为常染色体隐性遗传（除外FANCB为X连锁遗传、RAD51为常染色体显性遗传），目前已发现至少22个FA基因突变 [ 2 ]。 患者主要表现为先天性躯体发育异常、进行性血细胞减少和恶性肿瘤发生风险增高。 常见躯体异常包括发育迟缓、皮肤色素沉着、肢 …

Fanconi anemia group C protein is a protein that in humans is encoded by the FANCC gene. [5][6] This protein delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.

FANCC was the first gene causal for FA to be identified, and consequently has been the most intensively studied. Loss of function studies have demonstrated an important role for FANCC in the proliferation of germ cells and haematopoietic stem cells (HPCs).

Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair.

2025年2月17日 · Fanconi Anemia (FA) is an autosomal recessive disorder characterized by diverse clinical manifestations such as aplastic anemia, cancer predisposition, and developmental defects including...

范可尼贫血是一种遗传异质性隐性疾病，其特征是细胞遗传学不稳定、对 DNA 交联剂过敏、染色体断裂增加和 DNA 修复缺陷。 Fanconi 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关。 该基因编码互补组 C 的蛋白质。 [RefSeq 提供，2008 年 7 月]

FANCC gene encodes the Fanconi anemia group C protein which functions in apoptosis, redox regulation, cytokine signaling and other cellular processes. Fanconi anemia (FA) is an inherited bone marrow failure syndrome associated with a progressive decline in hematopoietic stem cells, developmental defects, and cancer predisposition.