🧬 基因注释：NDUFAF1
📝 官方信息
官方名称：NADH:ubiquinone oxidoreductase complex assembly factor 1
功能摘要：This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011].
🎯 作为靶基因的剪接因子
🏥 关联疾病
该基因暂无关联疾病记录