FANCG编码蛋白为参与DNA损伤修复的FANC的一个组分。范可尼贫血是一种常染色体隐性遗传疾病,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;FANCG的种系突变与范可尼贫血有关,易患乳腺癌。
FANCG, Fanconi anemia, complementation group G, is a member of the Fanconi anemia core complex, which plays a role in DNA repair. Germline FANCG mutations are associated with Fanconi anemia, which involves predisposition to various cancers.
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