🧬 基因注释：EFHD1
📝 官方信息
官方名称：EF-hand domain family member D1
功能摘要：This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is composed of an N-terminal disordered region, proline-rich elements, two EF-hands, and a C-terminal coiled-coil domain. This protein has been shown to associate with the mitochondrial inner membrane, and in HeLa cells, acts as a novel mitochondrial calcium ion sensor for mitochondrial flash activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016].
🎯 作为靶基因的剪接因子
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPM 置信度: 2.0
- MBNL1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- CPSF2 置信度: 1.0
- ELAVL3 置信度: 1.0
- MBNL2 置信度: 1.0
- NXF1 置信度: 1.0
- PCBP2 置信度: 1.0
- Ptbp2 置信度: 1.0
- Rbmx 置信度: 1.0
- Rbpms 置信度: 1.0
- SRSF3 置信度: 1.0
- Srsf3 置信度: 1.0
- TIA1 置信度: 1.0
- Tardbp 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录