🧬 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
- CELF2 置信度: 2.0
- CPSF6 置信度: 2.0
- CSTF2T 置信度: 2.0
- HNRNPK 置信度: 2.0
- MBNL1 置信度: 2.0
- MBNL3 置信度: 2.0
- Mbnl2 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM10 置信度: 2.0
- RBM15 置信度: 2.0
- AQR 置信度: 1.0
- B52 置信度: 1.0
- CELF1 置信度: 1.0
- CELF4 置信度: 1.0
- CELF5 置信度: 1.0
- CELF6 置信度: 1.0
- Celf1 置信度: 1.0
- MBNL1-2 置信度: 1.0
- MBNL2 置信度: 1.0
- PCBP2 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录