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中文人类
LIG4 - DNA Ligase 4
Alias:
LIG4S
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这个基因编码的蛋白质是一种DNA连接酶，可以在ATP依赖的反应中连接双链多脱氧核苷酸中的单链断裂。这种蛋白质对V(D)J重组和通过非同源末端连接(NHEJ)的DNA双链断裂(DSB)修复是必需的。这种蛋白质与X射线修复互补组4(XRCC4)蛋白形成复合物，并进一步与DNA依赖的蛋白激酶(DNA-PK)相互作用。已知XRCC4和DNA-PK是NHEJ所必需的。这个蛋白质和XRCC4形成的复合物的晶体结构已经解析。这个基因的缺陷是导致LIG4综合征的原因。已经观察到了编码相同蛋白质的替代剪接转录变异体。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
LIG4 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
