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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
ECH1 - Enoyl-CoA Hydratase 1
Alias:
HPXEL
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码水化异构酶超家族的一员。基因产物与几种物种的烯酰辅酶A(CoA)水化酶具有高度的序列相似性,特别是在这些蛋白质的特征保守结构域内。编码的蛋白质含有C端过氧化物酶体靶向序列,定位到过氧化物体。大鼠正链同源物定位到过氧化物体和线粒体的基质,可以将3-反,5-顺-二烯酰辅酶A异构化为2-反,4-反-二烯酰辅酶A,表明它是一个delta3,5-delta2,4-二烯酰辅酶A异构酶。该酶在脂肪酸β-氧化途径的辅助步骤中发挥作用。大鼠基因的表达受到过氧化物体增生的诱导。[RefSeq,2008年7月提供]
Related ID:
NCBI:1891
ENSEMBL:ENSG00000104823
HGNC:3149
UNIPROT:Q13011
OMIM:600696
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1891
2
10
16373 bp
35.82
25
--
5
8
ECH1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
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Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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