🧬 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
- HNRNPC 综合评分: 0.412 · 证据 2 条
- FUS 综合评分: 0.362 · 证据 1 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- fus 综合评分: 0.362 · 证据 1 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 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
- Tardbp 综合评分: 0.212 · 证据 1 条
- MATR3 综合评分: 0.200 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- CPSF6 综合评分: 0.150 · 证据 2 条
- DDX5 综合评分: 0.150 · 证据 2 条
- Srsf1 综合评分: 0.150 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- CPSF1 综合评分: 0.100 · 证据 1 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
- HNRNPUL1 综合评分: 0.100 · 证据 1 条
- RBM20 综合评分: 0.100 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录