🧬 基因注释：AK1
📝 官方信息
官方名称：adenylate kinase 1
功能摘要：This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene shares readthrough transcripts with the upstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022].
🎯 作为靶基因的剪接因子
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- Ptbp2 综合评分: 0.298 · 证据 1 条
- RBM10 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- TIA1 综合评分: 0.250 · 证据 1 条
- Tardbp 综合评分: 0.212 · 证据 1 条
- Mbnl2 综合评分: 0.200 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- Rbmx 综合评分: 0.162 · 证据 1 条
- CSTF2 综合评分: 0.150 · 证据 2 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
- EIF4A3 综合评分: 0.100 · 证据 2 条
- NXF1 综合评分: 0.100 · 证据 1 条
- Rbm7 综合评分: 0.100 · 证据 1 条
- Rnps1 综合评分: 0.100 · 证据 1 条
- Srsf7 综合评分: 0.100 · 证据 1 条
- UPF1 综合评分: 0.100 · 证据 1 条
- YBX1 综合评分: 0.100 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录