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中文人类
L2HGDH - L-2-hydroxyglutarate Dehydrogenase
Alias:
L2HGA
C14orf160
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这个基因编码L-2-羟基谷氨酸脱氢酶，这是一种依赖于FAD的酶，可以在各种哺乳动物组织中将L-2-羟基谷氨酸氧化为α-酮戊二酸。这个基因的突变导致L-2-羟基谷氨酸尿症，这是一种罕见的常染色体隐性神经代谢障碍，导致中度到严重的认知障碍。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
L2HGDH Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
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Year
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