🧬 基因注释：PAH
📝 官方信息
官方名称：phenylalanine hydroxylase
功能摘要：This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017].
🎯 作为靶基因的剪接因子
- CSTF2T 置信度: 2.0
- HNRNPA1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPM 置信度: 2.0
- HNRNPU 置信度: 2.0
- KHSRP 置信度: 2.0
- PCBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- AQR 置信度: 1.0
- FUS 置信度: 1.0
- HNRNPUL1 置信度: 1.0
- MATR3 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF4 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbm5 置信度: 1.0
- SAFB 置信度: 1.0
- SF3A3 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录