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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
ACADVL - Acyl-CoA Dehydrogenase Very Long Chain
Alias:
ACAD6
LCACD
VLCAD
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质定位在内质网膜上,在那里它催化线粒体脂肪酸β氧化途径的第一步。这种酰基辅酶A脱氢酶特异性地针对长链和非常长链脂肪酸。这个基因产物的缺乏减少心肌脂肪酸β氧化,并与心肌病有关。可变剪接导致多个转录变异体,编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:37
ENSEMBL:ENSG00000072778
HGNC:92
UNIPROT:P49748
OMIM:609575
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
37
9
20
8142 bp
70.39
1582
1
6
23
ACADVL 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
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Abundance
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Interactions
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Acting
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Related Mouse Models
Type
Name
MGI
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Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
Year
IF
No Data Found!
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