🧬 基因注释：HGD
📝 官方信息
官方名称：homogentisate 1,2-dioxygenase
功能摘要：This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010].
🎯 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
- PABPN1 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
- Rbmx 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录