🧬 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
- CELF2 置信度: 2.0
- CPSF4 置信度: 2.0
- CPSF7 置信度: 2.0
- CSTF2T 置信度: 2.0
- EWSR1 置信度: 2.0
- FUBP3 置信度: 2.0
- GRSF1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPM 置信度: 2.0
- HNRNPU 置信度: 2.0
- KHSRP 置信度: 2.0
- RBM15 置信度: 2.0
- CPSF2 置信度: 1.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
- MATR3 置信度: 1.0
- MBNL2 置信度: 1.0
- NXF1 置信度: 1.0
- Nova2 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录