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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
CTPS1 - CTP Synthase 1
Alias:
CTPS
GATD5
IMD24
GATD5A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种酶,负责催化UTP(尿苷三磷酸)转化为CTP(胞苷三磷酸)。这个反应是磷脂和核酸生物合成中的重要步骤。这个蛋白质的活性在免疫系统中很重要,这个基因的功能丧失与免疫缺陷有关。可变剪接导致多种转录变体。[由RefSeq提供,2014年7月]
Related ID:
NCBI:1503
ENSEMBL:ENSG00000171793
HGNC:2519
UNIPROT:P17812
OMIM:123860
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1503
10
19
32870 bp
66.69
195
1
5
22
CTPS1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
Tile View
#
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
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
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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