🧬 基因注释：SLC25A20
📝 官方信息
官方名称：solute carrier family 25 member 20
功能摘要：This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.350 · 证据 2 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- PCBP2 综合评分: 0.200 · 证据 1 条
- UPF1 综合评分: 0.198 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- CPSF2 综合评分: 0.100 · 证据 1 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
- EIF4A3 综合评分: 0.100 · 证据 2 条
- Rbm7 综合评分: 0.100 · 证据 1 条
- Rbmx 综合评分: 0.100 · 证据 1 条
- Rbpms 综合评分: 0.100 · 证据 1 条
- Rnps1 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