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中文人类
XRCC4 - X-ray Repair Cross Complementing 4
Alias:
SSMED
hXRCC4
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这个基因编码的蛋白质与DNA连接酶IV和DNA依赖的蛋白激酶一起作用，修复DNA双链断裂。这个蛋白质在非同源末端连接和V(D)J重组的完成中发挥作用。这个基因的突变可能导致矮小、小头畸形和内分泌功能紊乱（SSMED）。其他转录变异体，如NM_022406，由于最后一个剪接受体位点的多态性（rs1805377），可能在某些个体中不表达。[RefSeq，2019年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
XRCC4 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
