🧬 基因注释：NDUFV2
📝 官方信息
官方名称：NADH:ubiquinone oxidoreductase core subunit V2
功能摘要：The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.510 · 证据 2 条
- HNRNPA2B1 综合评分: 0.474 · 证据 2 条
- Tardbp 综合评分: 0.438 · 证据 1 条
- HNRNPA1 综合评分: 0.412 · 证据 2 条
- QKI 综合评分: 0.412 · 证据 1 条
- HNRNPK 综合评分: 0.398 · 证据 2 条
- FUS 综合评分: 0.362 · 证据 1 条
- HNRNPL 综合评分: 0.362 · 证据 2 条
- HNRNPU 综合评分: 0.362 · 证据 2 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
- HNRNPM 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- PCBP2 综合评分: 0.344 · 证据 1 条
- PRPF8 综合评分: 0.324 · 证据 1 条
- EWSR1 综合评分: 0.312 · 证据 2 条
- U2af2 综合评分: 0.306 · 证据 1 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- SRSF9 综合评分: 0.300 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录