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中文人类
HADHA - Hydroxyacyl-CoA Dehydrogenase Trifunctional Multienzyme Complex Subunit Alpha
Alias:
GBP
ECHA
HADH
LCEH
MTPA
LCHAD
TP-ALPHA
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这个基因编码线粒体三功能蛋白的α亚基，该蛋白催化线粒体长链脂肪酸的β氧化最后三个步骤。线粒体膜结合的异源复合物由四个α和四个β亚基组成，其中α亚基催化3-羟基酰基-CoA脱氢酶和烯酰-CoA水合酶的活性。这个基因的突变导致三功能蛋白缺乏或LCHAD缺乏。线粒体三功能蛋白的α和β亚基基因在人基因组中以头对头的方式相邻。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
HADHA 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
