🧬 基因注释:COQ6
官方名称:coenzyme Q6, monooxygenase
功能摘要:The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012].
- RBFOX2 综合评分: 0.362 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- RBM10 综合评分: 0.312 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- CSTF2 综合评分: 0.248 · 证据 2 条
- U2af2 综合评分: 0.244 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- CPSF4 综合评分: 0.150 · 证据 2 条
- CPSF6 综合评分: 0.150 · 证据 2 条
- Srsf2 综合评分: 0.150 · 证据 1 条
- Srsf3 综合评分: 0.150 · 证据 1 条
- U2af1 综合评分: 0.150 · 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
- Rnps1 综合评分: 0.100 · 证据 1 条
该基因暂无关联疾病记录