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人 D2HGDH (NM_152783) cDNA克隆
人 D2HGDH (NM_152783) cDNA克隆
  • 商品货号:FC102558
  • 已售 8 件 | 评价 0 人次 | 关注度 367
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    • 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]
    • 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