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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
DUT - Deoxyuridine Triphosphatase
Alias:
BMFDMS
dUTPase
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种核苷酸代谢所必需的关键酶。编码的蛋白质形成一个普遍存在的四聚酶,将dUTP水解成dUMP和焦磷酸盐。这个反应为细胞提供两个目的:为DNA复制所需的胸腺嘧啶核苷酸合成提供前体(dUMP),并限制dUTP的细胞内库。dUTP水平的升高导致尿嘧啶更多地掺入DNA中,从而引发由尿嘧啶糖基化酶介导的广泛切除修复。这个修复过程导致dUTP的去除和重新结合,但这是自我挫败的,并导致DNA断裂和细胞死亡。这个基因的替代剪接产生不同的异构体,它们定位在线粒体或细胞核中。一个相关的假基因位于染色体19上。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1854
ENSEMBL:ENSG00000128951
HGNC:3078
UNIPROT:P33316
OMIM:601266
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1854
4
7
12279 bp
26.56
8
1
4
24
DUT 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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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
Title
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Journal
Year
IF
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