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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
ADPRH - ADP-ribosylarginine Hydrolase
Alias:
ARH1
hARH1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的酶在ADP-核糖化循环中催化从蛋白质的精氨酸残基上移除单-ADP-核糖。与需要DTT达到最大活性的大鼠和小鼠酶不同,人类酶是DTT独立的。已经描述了编码不同蛋白质异构体的可变剪接转录变异体。[由RefSeq,2014年5月提供]
Related ID:
NCBI:141
ENSEMBL:ENSG00000144843
HGNC:269
UNIPROT:P54922
OMIM:603081
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
141
6
5
10454 bp
39.51
12
--
3
6
ADPRH 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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Cell-specific RNA expression
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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