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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
CAD - Carbamoyl-phosphate Synthetase 2, Aspartate Transcarbamylase, And Dihydroorotase
Alias:
CDG1Z
DEE50
GATD4
EIEE50
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
“哺乳动物细胞增殖需要从头合成嘧啶核苷酸。这个基因编码一个三功能蛋白,该蛋白与嘧啶生物合成途径中6个步骤中的前3个酶的酶活性相关:氨甲酰磷酸合成酶(CPS II)、天冬酸转氨甲酰酶和二氢乳清酸酶。这个蛋白受到有丝分裂原激活的蛋白激酶(MAPK)级联的调节,这表明MAPK级联的激活与嘧啶核苷酸的新合成之间有直接联系。可变剪接导致多个转录变异体编码不同的异构体。[由RefSeq,2015年4月提供]”
Related ID:
NCBI:790
ENSEMBL:ENSG00000084774
HGNC:1424
UNIPROT:P27708
OMIM:114010
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
790
4
44
26575 bp
242.98
1300
2
6
33
CAD 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
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Abundance
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Interactions
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Acting
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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
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Journal
Year
IF
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