🧬 基因注释：ATP7A
📝 官方信息
官方名称：ATPase copper transporting alpha
功能摘要：This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013].
🎯 作为靶基因的剪接因子
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPC 综合评分: 0.412 · 证据 2 条
- HNRNPL 综合评分: 0.362 · 证据 2 条
- CELF2 综合评分: 0.356 · 证据 2 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- QKI 综合评分: 0.350 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- NOVA1 综合评分: 0.298 · 证据 2 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- FUBP1 综合评分: 0.250 · 证据 2 条
- RBM10 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- TIA1 综合评分: 0.250 · 证据 1 条
- CSTF2 综合评分: 0.248 · 证据 2 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- NXF1 综合评分: 0.162 · 证据 1 条
- CPSF4 综合评分: 0.150 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录