- accession:NM_152783
- 基因别名:D2HGDH
- 基因描述:Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), transcript variant 1, mRNA.
- 载体: 现货载体
- CDS区长度:1566
- 翻译后氨基酸长度:521
- TranscriptVariant:This variant (1) represents the longest transcript and encodes the longer protein (isoform 1).
- 基因简介:This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [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