🧬 基因注释：DNM1L
📝 官方信息
官方名称：dynamin 1L
功能摘要：This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimer's disease. Mutations in this gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.510 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- Ptbp2 综合评分: 0.344 · 证据 1 条
- MBNL2 综合评分: 0.324 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPD 综合评分: 0.300 · 证据 2 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- PCBP2 综合评分: 0.298 · 证据 1 条
- NOVA1 综合评分: 0.262 · 证据 2 条
- Nova2 综合评分: 0.262 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- SF3A3 综合评分: 0.262 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录