🧬 基因注释：BLOC1S1
📝 官方信息
官方名称：biogenesis of lysosomal organelles complex 1 subunit 1
功能摘要：BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008].
🎯 作为靶基因的剪接因子
- CPSF6 置信度: 2.0
- CPSF7 置信度: 2.0
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- EWSR1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPK 置信度: 2.0
- AQR 置信度: 1.0
- FUS 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbmx 置信度: 1.0
- Rnps1 置信度: 1.0
- SRSF3 置信度: 1.0
- Srsf1 置信度: 1.0
- Srsf7 置信度: 1.0
- Tardbp 置信度: 1.0
- U2af1 置信度: 1.0
- UPF1 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录