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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
MED12 - Mediator Complex Subunit 12
Alias:
Kto
OKS
FGS1
HDKR
HOPA
OPA1
OHDOX
ARC240
CAGH45
MED12S
TNRC11
TRAP230
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
预起始复合体是一种大型蛋白质组装,部分控制着转录的起始。这个预起始复合体的一个成分是一个1.2 MDa的蛋白质聚集体,称为Mediator。这个Mediator成分与一个包含这个基因编码的蛋白质(Mediator复合物亚基12,MED12)的CDK8亚复合体结合,还有MED13、CDK8激酶和细胞周期蛋白C。CDK8亚复合体调节Mediator与聚合酶II的相互作用,从而调控转录起始和再起始的速度。MED12蛋白是激活CDK8激酶所必需的。这个基因的缺陷导致X连锁的Opitz-Kaveggia综合征,也称为FG综合征和Lujan-Fryns综合征。[RefSeq,2009年8月提供]
Related ID:
NCBI:9968
ENSEMBL:ENSG00000184634
HGNC:11957
UNIPROT:Q93074
OMIM:300188
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9968
7
45
23855 bp
243.08
1434
14
4
27
MED12 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
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Alphabetical
Cell-specific RNA expression
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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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