🧬 基因注释：NSDHL
📝 官方信息
官方名称：NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL
功能摘要：The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 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
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPM 置信度: 2.0
- MBNL1 置信度: 2.0
- PABPC4 置信度: 2.0
- PTBP1 置信度: 2.0
- RBM10 置信度: 2.0
- RBM15 置信度: 2.0
- AQR 置信度: 1.0
- MATR3 置信度: 1.0
- Nova2 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
🏥 关联疾病
该基因暂无关联疾病记录