人 D2HGDH (NM_001287249) cDNA克隆

基本信息

Accession: NM_001287249
基因名称: D2HGDH
基因别名: D2HGD
基因描述: Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1164 (查看编码区序列)
翻译后氨基酸长度: 387 (查看氨基酸序列)
Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G100543 人 D2HGDH (NM_001287249) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 D2HGDH (NM_152783) cDNA克隆 transcript variant 1
人 D2HGDH (NM_001287249) cDNA克隆 transcript variant 2

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]

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