🧬 基因注释：ATP2A1
📝 官方信息
官方名称：ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
功能摘要：This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013].
🎯 作为靶基因的剪接因子
- MBNL1 综合评分: 0.750 · 证据 2 条
- CELF1 综合评分: 0.364 · 证据 1 条
- Celf1 综合评分: 0.364 · 证据 1 条
- celf1 综合评分: 0.364 · 证据 1 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- Mbnl2 综合评分: 0.324 · 证据 2 条
- RBM10 综合评分: 0.312 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- MBNL2 综合评分: 0.257 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- U2af2 综合评分: 0.244 · 证据 1 条
- U2af1 综合评分: 0.212 · 证据 1 条
- CELF2 综合评分: 0.207 · 证据 2 条
- PCBP2 综合评分: 0.200 · 证据 1 条
- SF3A3 综合评分: 0.200 · 证据 1 条
- Rbmx 综合评分: 0.162 · 证据 1 条
- CELF4 综合评分: 0.157 · 证据 1 条
- CELF5 综合评分: 0.157 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录