🧬 基因注释：DMGDH
📝 官方信息
官方名称：dimethylglycine dehydrogenase
功能摘要：This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].
🎯 作为靶基因的剪接因子
- CPSF4 置信度: 2.0
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPM 置信度: 2.0
- HNRNPU 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM15 置信度: 2.0
- CPSF1 置信度: 1.0
- CPSF2 置信度: 1.0
- CPSF3 置信度: 1.0
- ELAVL3 置信度: 1.0
- NXF1 置信度: 1.0
- PCBP2 置信度: 1.0
- Rbm7 置信度: 1.0
- Rbmx 置信度: 1.0
- SRSF2 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