🧬 基因注释：ALDH6A1
📝 官方信息
官方名称：aldehyde dehydrogenase 6 family member A1
功能摘要：This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.448 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- Mbnl2 综合评分: 0.298 · 证据 1 条
- MBNL2 综合评分: 0.262 · 证据 1 条
- PCBP2 综合评分: 0.262 · 证据 1 条
- ELAVL3 综合评分: 0.260 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- TIA1 综合评分: 0.250 · 证据 1 条
- Nova2 综合评分: 0.200 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
- UPF1 综合评分: 0.162 · 证据 1 条
- Srsf3 综合评分: 0.150 · 证据 1 条
- Tardbp 综合评分: 0.150 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- CPSF1 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