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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
SUCLG1 - Succinate-CoA Ligase GDP/ADP-forming Subunit Alpha
Alias:
GALPHA
MTDPS9
SUCLA1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码异二聚酶琥珀酸辅酶A连接酶的α亚基。这种酶被靶向到线粒体,并催化琥珀酰CoA和ADP或GDP转化为琥珀酸和ATP或GTP。这个基因中的突变是导致代谢紊乱致命婴儿乳酸酸中毒和线粒体DNA耗竭的原因。[RefSeq,2010年2月提供]
Related ID:
NCBI:8802
ENSEMBL:ENSG00000163541
HGNC:11449
UNIPROT:P53597
OMIM:611224
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8802
1
9
35753 bp
36.25
280
2
7
12
SUCLG1 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
Regulation
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Score
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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
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