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中文人类
EHHADH - Enoyl-CoA Hydratase And 3-hydroxyacyl CoA Dehydrogenase
Alias:
LBP
ECHD
LBFP
MFE1
PBFE
FRTS3
L-PBE
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这个基因编码的蛋白质是一种双功能酶，是过氧化物酶体β氧化途径的四种酶之一。编码蛋白质的N端区域含有烯酰CoA水合酶活性，而C端区域含有3-羟基酰CoA脱氢酶活性。这个基因的缺陷是导致过氧化物酶体紊乱的原因，例如Zellweger综合征。已经发现这个基因有两个转录变异体，编码不同的异构体。[RefSeq，2009年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
EHHADH Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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
Journal
Year
IF
