🧬 基因注释：MVK
📝 官方信息
官方名称：mevalonate kinase
功能摘要：This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014].
🎯 作为靶基因的剪接因子
- CSTF2T 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPM 置信度: 2.0
- MBNL1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM15 置信度: 2.0
- AQR 置信度: 1.0
- FUS 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF4 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbm5 置信度: 1.0
- Rbmx 置信度: 1.0
- Rnps1 置信度: 1.0
- SAFB 置信度: 1.0
- SAFB2 置信度: 1.0
- SRSF9 置信度: 1.0
- Srsf1 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录