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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
EPHX1 - Epoxide Hydrolase 1
Alias:
MEH
EPHX
EPOX
HYL1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
环氧水解酶是一种关键的生物转化酶,它将芳环化合物的降解产生的环氧物转化为可以结合并排出体外 的反式二醇。环氧水解酶在环氧物的活化与解毒中起作用。该基因的突变导致子痫前期、环氧水解酶缺乏或环氧水解酶活性增加。已发现该基因的替代剪接转录变异体编码相同的蛋白质。[RefSeq,2008年12月提供]
Related ID:
NCBI:2052
ENSEMBL:ENSG00000143819
HGNC:3401
UNIPROT:P07099
OMIM:132810
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2052
10
9
35440 bp
52.95
63
1
5
20
EPHX1 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
No data available
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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