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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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人类
SDHA - Succinate Dehydrogenase Complex Flavoprotein Subunit A
Alias:
FP
PGL5
SDH1
SDH2
SDHF
CMD1GG
MC2DN1
NDAXOA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码琥珀酸-泛醌氧化还原酶的主要催化亚基,这是一个线粒体呼吸链的复合物。该复合物由四个核编码的亚基组成,并定位在线粒体内膜中。这个基因的突变与一种称为Leigh综合征的线粒体呼吸链缺乏症有关。在一个假基因已经在染色体3q29上被识别。已经发现这个基因有不同的剪接转录变异体,它们编码不同的异构体。[由RefSeq,2014年6月提供]
Related ID:
NCBI:6389
ENSEMBL:ENSG00000073578
HGNC:10680
UNIPROT:P31040
OMIM:600857
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6389
6
15
50427 bp
72.69
2376
15
5
24
SDHA 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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