🧬 基因注释：ALDH5A1
📝 官方信息
官方名称：aldehyde dehydrogenase 5 family member A1
功能摘要：This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- HNRNPU 综合评分: 0.362 · 证据 2 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
- Nova2 综合评分: 0.344 · 证据 1 条
- FUS 综合评分: 0.300 · 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
- fus 综合评分: 0.300 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 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
- U2af2 综合评分: 0.224 · 证据 1 条
- CELF2 综合评分: 0.212 · 证据 2 条
- U2af1 综合评分: 0.212 · 证据 1 条
- MATR3 综合评分: 0.200 · 证据 1 条
- MBNL2 综合评分: 0.200 · 证据 1 条
- PCBP2 综合评分: 0.200 · 证据 1 条
- NXF1 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