🧬 基因注释：CBS
📝 官方信息
官方名称：cystathionine beta-synthase
功能摘要：The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.474 · 证据 2 条
- HNRNPH1 综合评分: 0.448 · 证据 2 条
- FUS 综合评分: 0.398 · 证据 1 条
- HNRNPU 综合评分: 0.398 · 证据 2 条
- fus 综合评分: 0.398 · 证据 1 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- PCBP2 综合评分: 0.324 · 证据 1 条
- Tardbp 综合评分: 0.324 · 证据 1 条
- EWSR1 综合评分: 0.312 · 证据 2 条
- RBM10 综合评分: 0.312 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- UPF1 综合评分: 0.286 · 证据 1 条
- GRSF1 综合评分: 0.274 · 证据 2 条
- SF3A3 综合评分: 0.262 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- RBM22 综合评分: 0.250 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录