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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
PPP4R1 - Protein Phosphatase 4 Regulatory Subunit 1
Alias:
MEG1
PP4R1
PP4(Rmeg)
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码丝氨酸/苏氨酸蛋白磷酸酶4(PP4)的多种替代调节亚单位之一。该蛋白质具有多个HEAT重复序列。这个蛋白质与PP4RC形成复合物。这个复合物可能具有与其他PP4复合物不同的作用,包括调控HDAC3(Zhang等人,PMID: 15805470)。在染色体20上还有一个转录的假基因。选择性剪接产生了多种转录变异体。[RefSeq提供,2012年6月]
Related ID:
NCBI:9989
ENSEMBL:ENSG00000154845
HGNC:9320
UNIPROT:Q8TF05
OMIM:604908
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9989
15
20
70406 bp
107.00
36
--
3
9
PPP4R1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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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
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Alphabetical
Cell-specific RNA expression
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Interactions
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Related Mouse Models
Type
Name
MGI
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Status
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Link
No data available
References Literature
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No Data Found!
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