🧬 基因注释：CPT1A
📝 官方信息
官方名称：carnitine palmitoyltransferase 1A
功能摘要：The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- RBFOX2 综合评分: 0.424 · 证据 2 条
- FUS 综合评分: 0.362 · 证据 1 条
- fus 综合评分: 0.362 · 证据 1 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- TIA1 综合评分: 0.312 · 证据 1 条
- UPF1 综合评分: 0.306 · 证据 1 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- CSTF2 综合评分: 0.274 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- MSI1 综合评分: 0.248 · 证据 1 条
- NOVA1 综合评分: 0.200 · 证据 2 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- SF3A3 综合评分: 0.200 · 证据 1 条
- Rnps1 综合评分: 0.162 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录