- accession:NM_170726
- 基因别名:ALDH4A1
- 基因描述:Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), transcript variant P5CDhS, mRNA.
- 载体:现货载体
- CDS区长度:1692
- 翻译后氨基酸长度:563
- TranscriptVariant:This variant (P5CDhS) differs in the 3' UTR compared to variant P5CDhL. Both variants P5CDhL and P5CDhS encode the same protein (isoform a).
- 基因简介:This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]
- 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