🧬 基因注释：HSD3B7
📝 官方信息
官方名称：hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
功能摘要：This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- RBM10 综合评分: 0.312 · 证据 2 条
- HNRNPK 综合评分: 0.300 · 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
- PRPF8 综合评分: 0.262 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- Rbmx 综合评分: 0.224 · 证据 1 条
- Srsf1 综合评分: 0.212 · 证据 1 条
- Rnps1 综合评分: 0.198 · 证据 1 条
- UPF1 综合评分: 0.198 · 证据 1 条
- CSTF2T 综合评分: 0.162 · 证据 2 条
- Rbpms 综合评分: 0.162 · 证据 1 条
- CPSF6 综合评分: 0.150 · 证据 2 条
- PABPC4 综合评分: 0.150 · 证据 2 条
- Srsf2 综合评分: 0.150 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- NXF1 综合评分: 0.100 · 证据 1 条
- Rbm7 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