🧬 基因注释：PCBD1
📝 官方信息
官方名称：pterin-4 alpha-carbinolamine dehydratase 1
功能摘要：This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].
🎯 作为靶基因的剪接因子
- FUS 综合评分: 0.362 · 证据 1 条
- HNRNPL 综合评分: 0.362 · 证据 2 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- fus 综合评分: 0.362 · 证据 1 条
- PCBP2 综合评分: 0.344 · 证据 1 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- UPF1 综合评分: 0.286 · 证据 1 条
- CSTF2 综合评分: 0.274 · 证据 2 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- TIA1 综合评分: 0.250 · 证据 1 条
- CSTF2T 综合评分: 0.224 · 证据 2 条
- U2af1 综合评分: 0.212 · 证据 1 条
- Rbmx 综合评分: 0.162 · 证据 1 条
- Rnps1 综合评分: 0.162 · 证据 1 条
- Srsf7 综合评分: 0.162 · 证据 1 条
- YBX1 综合评分: 0.162 · 证据 1 条
- AQR 综合评分: 0.150 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录