🧬 基因注释：WFS1
📝 官方信息
官方名称：wolframin ER transmembrane glycoprotein
功能摘要：This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009].
🎯 作为靶基因的剪接因子
- CSTF2T 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPK 置信度: 2.0
- MBNL1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM15 置信度: 2.0
- AQR 置信度: 1.0
- CPSF1 置信度: 1.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
- HNRNPUL1 置信度: 1.0
- Mbnl2 置信度: 1.0
- NXF1 置信度: 1.0
- Nova2 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF4 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbm7 置信度: 1.0
- Rbmx 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录