🧬 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
- FUS 综合评分: 0.398 · 证据 1 条
- fus 综合评分: 0.398 · 证据 1 条
- Tardbp 综合评分: 0.356 · 证据 1 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- RBM15 综合评分: 0.312 · 证据 2 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- RBM10 综合评分: 0.250 · 证据 2 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
- ELAVL3 综合评分: 0.162 · 证据 1 条
- UPF1 综合评分: 0.162 · 证据 1 条
- CPSF6 综合评分: 0.150 · 证据 2 条
- CPSF7 综合评分: 0.150 · 证据 2 条
- CSTF2 综合评分: 0.150 · 证据 2 条
- U2af1 综合评分: 0.150 · 证据 1 条
- CPSF3 综合评分: 0.100 · 证据 1 条
- NXF1 综合评分: 0.100 · 证据 1 条
- RBM20 综合评分: 0.100 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录