🧬 基因注释：BBS5
📝 官方信息
官方名称：Bardet-Biedl syndrome 5
功能摘要：This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.448 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- PCBP2 综合评分: 0.262 · 证据 1 条
- Tardbp 综合评分: 0.212 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
- CPSF4 综合评分: 0.150 · 证据 2 条
- CPSF7 综合评分: 0.150 · 证据 2 条
- GRSF1 综合评分: 0.150 · 证据 2 条
- Srsf1 综合评分: 0.150 · 证据 1 条
- Srsf4 综合评分: 0.150 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- CPSF1 综合评分: 0.100 · 证据 1 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
- UPF1 综合评分: 0.100 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录