- accession:NM_170740
- 基因别名:SSDH; SSADH
- 基因描述:Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), transcript variant 1, mRNA.
- 载体:现货载体
- CDS区长度:1647
- 翻译后氨基酸长度:548
- TranscriptVariant:This variant (1) represents the longer transcript, and encodes the longer isoform (1).
- 基因简介: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]
- 规格:10ul 质粒
CDS区参考序列: 点击查看序列翻译后氨基酸参数序列: 点击查看序列