🧬 基因注释：BPGM
📝 官方信息
官方名称：bisphosphoglycerate mutase
功能摘要：2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009].
🎯 作为靶基因的剪接因子
- CPSF6 置信度: 2.0
- CPSF7 置信度: 2.0
- CSTF2 置信度: 2.0
- EWSR1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPL 置信度: 2.0
- RBM10 置信度: 2.0
- RBM15 置信度: 2.0
- RBM20 置信度: 2.0
- CPSF3 置信度: 1.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
- NXF1 置信度: 1.0
- Ptbp2 置信度: 1.0
- Rbmx 置信度: 1.0
- Rnps1 置信度: 1.0
- SRSF3 置信度: 1.0
- Srsf7 置信度: 1.0
- Tardbp 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录