🧬 基因注释：UNC45B
📝 官方信息
官方名称：unc-45 myosin chaperone B
功能摘要：This gene encodes a co-chaperone required for folding and accumulation of type II myosins. The protein consists of three tetratricopeptide repeat motifs at the N-terminus that form a complex with heat shock protein 90, a central region of unknown function that is conserved in all Unc-45 proteins, and a C-terminal Unc-45/Cro1/She4 domain. The protein is expressed at high levels in striated muscle, where its muscle myosin chaperone activity is dependent on heat shock protein 90 acting as a co-chaperone. A missense mutation in this gene has been associated with cataract development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015].
🎯 作为靶基因的剪接因子
- CPSF6 置信度: 2.0
- CSTF2T 置信度: 2.0
- HNRNPA1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPM 置信度: 2.0
- HNRNPU 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM20 置信度: 2.0
- RBM22 置信度: 2.0
- HNRNPUL1 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbmx 置信度: 1.0
- SAFB2 置信度: 1.0
- SF3A3 置信度: 1.0
- SMNDC1 置信度: 1.0
- SRSF9 置信度: 1.0
- Srsf1 置信度: 1.0
- Srsf7 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录