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中文人类
D2HGDH - D-2-hydroxyglutarate Dehydrogenase
Alias:
D2HGD
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这个基因编码D-2羟基戊酸脱氢酶，这是一种属于FAD结合的氧化还原酶/转移酶4家族的线粒体酶。这种酶在肝脏和肾脏中最活跃，但在心脏和大脑中也有活性，将D-2-羟基戊酸转化为2-酮戊酸。这个基因中的突变存在于D-2-羟基戊酸尿症中，这是一种罕见的隐性神经代谢紊乱，导致发育迟滞、癫痫、肌无力和小畸形特征。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
D2HGDH Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
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Tile View
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Abundance
Alphabetical
Cell-specific RNA expression
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Regulation
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References Literature
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