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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
ARG1 - Arginase 1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
精氨酸酶催化精氨酸水解成鸟氨酸和尿素。哺乳动物至少存在两种精氨酸酶同系物(I型和II型),它们在组织分布、亚细胞定位、免疫交叉反应和生理功能方面有所不同。这个基因编码的I型同系物是一种胞质酶,主要表达在肝脏作为尿素循环的组成部分。这个酶的遗传缺陷导致精氨酸血症,这是一种特征为高氨血症的常染色体隐性障碍。已经发现这个基因有两个编码不同同系物的转录变异体。[由RefSeq,2011年9月提供]
Related ID:
NCBI:383
ENSEMBL:ENSG00000118520
HGNC:663
UNIPROT:P05089
OMIM:608313
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
383
3
8
11104 bp
34.73
439
1
13
23
ARG1 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
Organ
Abundance
Alphabetical
Interactions
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Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
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
No Data Found!
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