- accession:NM_002860
- 基因别名:ALDH18A1
- 基因描述:Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), transcript variant 1, mRNA.
- 载体: 现货载体
- CDS区长度:2388
- 翻译后氨基酸长度:795
- TranscriptVariant:This variant (1), also known as P5CSL, represents the longer transcript and encodes the longer isoform (1).
- 基因简介:This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]
- 载体信息:自有图片地址
- 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