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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
PPARGC1A - PPARG Coactivator 1 Alpha
Alias:
LEM6
PGC1
PGC1A
PGC-1v
PPARGC1
PGC-1alpha
PGC-1(alpha)
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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是一种调控能量代谢相关基因的转录共激活子。该蛋白质与PPARgamma相互作用,使其能够与多种转录因子相互作用。该蛋白质可以与其他蛋白质相互作用并调控cAMP响应元件结合蛋白(CREB)和核呼吸因子(NRFs)的活性。它在外部生理刺激与线粒体生物发生调控之间提供了直接联系,并成为调控肌肉纤维类型决定的主要因素。该蛋白质还可能参与控制血压,调节细胞内胆固醇稳态,以及肥胖的发展。[由RefSeq,2008年7月提供]
Related ID:
NCBI:10891
ENSEMBL:ENSG00000109819
HGNC:9237
UNIPROT:Q9UBK2
OMIM:604517
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10891
22
13
680885 bp
91.03
32
1
11
14
PPARGC1A 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
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Cell-specific RNA expression
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Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
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CAS Number
Status
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Link
No data available
References Literature
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