🧬 基因注释：GPT2
📝 官方信息
官方名称：glutamic--pyruvic transaminase 2
功能摘要：This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Alanine transaminases play roles in gluconeogenesis and amino acid metabolism in many tissues including skeletal muscle, kidney, and liver. Activating transcription factor 4 upregulates this gene under metabolic stress conditions in hepatocyte cell lines. A loss of function mutation in this gene has been associated with developmental encephalopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.448 · 证据 2 条
- RBFOX2 综合评分: 0.424 · 证据 2 条
- HNRNPH1 综合评分: 0.412 · 证据 2 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- SRSF2 综合评分: 0.300 · 证据 1 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- Srsf2 综合评分: 0.300 · 证据 1 条
- Srsf3 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- MATR3 综合评分: 0.262 · 证据 1 条
- PCBP2 综合评分: 0.262 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录