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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
GART - Phosphoribosylglycinamide Formyltransferase, Phosphoribosylglycinamide Synthetase, Phosphoribosylaminoimidazole Synthetase
Alias:
AIRS
GARS
PAIS
PGFT
PRGS
GARTF
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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个具有磷酸核糖甘氨酰胺甲酰转移酶、磷酸核糖甘氨酰胺合成酶和磷酸核糖氨基咪唑合成酶活性的三功能多肽,这是新生嘌呤生物合成的所需。这种酶在脊椎动物中高度保守。这个基因的可变剪接导致两个转录变异体,它们编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2618
ENSEMBL:ENSG00000159131
HGNC:4163
UNIPROT:P22102
OMIM:138440
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2618
9
22
38963 bp
107.77
38
--
6
16
GART 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
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Interactions
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Acting
Regulation
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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
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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