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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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人类
MRE11 - MRE11 Homolog, Double Strand Break Repair Nuclease
Alias:
ATLD
HNGS1
MRE11A
MRE11B
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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蛋白,参与同源重组、端粒长度维持和DNA双链断裂修复。该蛋白具有3'到5'核酸酶活性和核酸内切酶活性。该蛋白与RAD50同源蛋白形成复合物;该复合物是DNA非同源连接所必需的,并具有增强的单链DNA核酸内切酶和3'到5'核酸酶活性。与DNA连接酶结合时,该蛋白促进在体外使用靠近DNA片段末端的短同源序列的非互补末端连接。这个基因在染色体3上有一个假基因。这个基因的可变剪接导致两种转录变异体,编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:4361
ENSEMBL:ENSG00000020922
HGNC:7230
UNIPROT:P49959
OMIM:600814
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4361
9
20
96843 bp
80.59
1894
5
8
41
MRE11 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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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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