🧬 基因注释:NFU1
📝 官方信息
官方名称:NFU1 iron-sulfur cluster scaffold
功能摘要:This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011].
🎯 作为靶基因的剪接因子
- CPSF6 置信度: 2.0
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- GRSF1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPL 置信度: 2.0
- MBNL1 置信度: 2.0
- PTBP1 置信度: 2.0
- ELAVL3 置信度: 1.0
- NXF1 置信度: 1.0
- PCBP2 置信度: 1.0
- Rbmx 置信度: 1.0
- SRSF9 置信度: 1.0
- Srsf1 置信度: 1.0
- Srsf3 置信度: 1.0
- Srsf7 置信度: 1.0
- Tardbp 置信度: 1.0
- U2af1 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录