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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
OPA3 - Outer Mitochondrial Membrane Lipid Metabolism Regulator OPA3
Alias:
MGA3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个蛋白质的鼠正链同源物与线粒体内膜共纯化。这个基因的突变已被证明会导致III型3-甲基戊二酸尿症和常染色体显性视神经萎缩和白内障。已经发现这个基因有多种转录变异体,编码不同的异构体。[由RefSeq,2009年10月提供]
Related ID:
NCBI:80207
ENSEMBL:ENSG00000125741
HGNC:8142
UNIPROT:Q9H6K4
OMIM:606580
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
80207
3
2
57376 bp
20.00
513
2
2
9
OPA3 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
Reset
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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