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中文人类
NBN - Nibrin
Alias:
ATV
NBS
P95
NBS1
AT-V1
AT-V2
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这种基因的突变与Nijmegen断裂综合征有关，这是一种常染色体隐性遗传的染色体不稳定综合征，特征是头小、生长迟缓、免疫缺陷和癌症倾向。编码的蛋白质是MRE11/RAD50双链断裂修复复合物的成员，该复合物由5种蛋白质组成。认为这种基因产物涉及DNA双链断裂的修复和DNA损伤诱导的检查点激活。[RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
NBN 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
