🧬 基因注释：ECEL1
📝 官方信息
官方名称：endothelin converting enzyme like 1
功能摘要：This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014].
🎯 作为靶基因的剪接因子
- PTBP1 综合评分: 0.362 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- Rnps1 综合评分: 0.322 · 证据 1 条
- EWSR1 综合评分: 0.312 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF2 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- NXF1 综合评分: 0.224 · 证据 1 条
- EIF4A3 综合评分: 0.162 · 证据 2 条
- CSTF2 综合评分: 0.150 · 证据 2 条
- Srsf3 综合评分: 0.150 · 证据 1 条
- Rbm7 综合评分: 0.100 · 证据 1 条
- Snrpa 综合评分: 0.100 · 证据 1 条
- U2af2 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