🧬 基因注释：ABO
📝 官方信息
官方名称：ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
功能摘要：This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Apr 2022].
🎯 作为靶基因的剪接因子
- CPSF6 置信度: 2.0
- CSTF2T 置信度: 2.0
- DDX5 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
- PTBP1 置信度: 2.0
- RBM20 置信度: 2.0
- CPSF1 置信度: 1.0
- FUS 置信度: 1.0
- HNRNPUL1 置信度: 1.0
- MATR3 置信度: 1.0
- PRPF8 置信度: 1.0
- SAFB 置信度: 1.0
- SAFB2 置信度: 1.0
- Srsf1 置信度: 1.0
- Tardbp 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录