🧬 基因注释：AP3B2
📝 官方信息
官方名称：adaptor related protein complex 3 subunit beta 2
功能摘要：Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017].
🎯 作为靶基因的剪接因子
- SRSF9 综合评分: 0.424 · 证据 1 条
- Tardbp 综合评分: 0.324 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- RBM10 综合评分: 0.250 · 证据 2 条
- TIA1 综合评分: 0.250 · 证据 1 条
- GRSF1 综合评分: 0.248 · 证据 2 条
- ELAVL3 综合评分: 0.244 · 证据 1 条
- Srsf3 综合评分: 0.212 · 证据 1 条
- Mbnl2 综合评分: 0.200 · 证据 1 条
- NOVA1 综合评分: 0.200 · 证据 2 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
- NXF1 综合评分: 0.162 · 证据 1 条
- U2af2 综合评分: 0.162 · 证据 1 条
- CELF2 综合评分: 0.150 · 证据 2 条
- CPSF4 综合评分: 0.150 · 证据 2 条
- CPSF7 综合评分: 0.150 · 证据 2 条
- Srsf2 综合评分: 0.150 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录