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中文人类
IVD - Isovaleryl-CoA Dehydrogenase
Alias:
IVDH
ACAD2
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异戊酸辅酶A脱氢酶（IVD）是一种线粒体基质酶，催化亮氨酸分解代谢的第三个步骤。IVD的遗传缺陷导致异戊酸的积累，这对中枢神经系统有毒并导致异戊酸血症。已发现该基因的替代剪接转录变异体。[RefSeq,2017年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
IVD 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
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CAS Number
Status
Phase
Link
References Literature
Title
PMID
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Year
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