🧬 基因注释：ME2
📝 官方信息
官方名称：malic enzyme 2
功能摘要：This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009].
🎯 作为靶基因的剪接因子
- HNRNPL 综合评分: 0.398 · 证据 2 条
- FUS 综合评分: 0.362 · 证据 1 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- RBFOX2 综合评分: 0.362 · 证据 2 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
- HNRNPM 综合评分: 0.350 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- EWSR1 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
- GRSF1 综合评分: 0.248 · 证据 2 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- CPSF1 综合评分: 0.162 · 证据 1 条
- SAFB2 综合评分: 0.162 · 证据 1 条
- U2af2 综合评分: 0.162 · 证据 1 条
- ACIN1 综合评分: 0.150 · 证据 2 条
- CPSF6 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