🧬 基因注释：AP4B1
📝 官方信息
官方名称：adaptor related protein complex 4 subunit beta 1
功能摘要：This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011].
🎯 作为靶基因的剪接因子
- CELF2 置信度: 2.0
- CPSF4 置信度: 2.0
- CPSF6 置信度: 2.0
- CPSF7 置信度: 2.0
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- HNRNPA1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPU 置信度: 2.0
- KHSRP 置信度: 2.0
- MBNL1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBM10 置信度: 2.0
- RBM15 置信度: 2.0
- CPSF2 置信度: 1.0
- FUS 置信度: 1.0
- NXF1 置信度: 1.0
- PRPF8 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录