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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
ECI2 - Enoyl-CoA Delta Isomerase 2
Alias:
DRS1
PECI
ACBD2
DRS-1
HCA88
dJ1013A10.3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码水合酶/异构酶超家族的一员。所编码的蛋白质是一种关键的线粒体酶,参与不饱和脂肪酸的β氧化。它催化在顺式、单不饱和脂肪酸和多不饱和脂肪酸逐步降解过程中产生的3-顺式和3-反式烯酰辅酶A酯转化为2-反式烯酰辅酶A中间产物。已经描述了可变剪接的转录变异体。[由RefSeq,2011年8月提供]
Related ID:
NCBI:10455
ENSEMBL:ENSG00000198721
HGNC:14601
UNIPROT:O75521
OMIM:608024
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10455
3
10
19870 bp
43.59
22
--
7
15
ECI2 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
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Interactions
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Acting
Regulation
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Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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