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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
小鼠
Nbn - nibrin
Alias:
Nbs1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
损伤DNA结合活性。参与胚泡生长和同型转换。在细胞群增殖的上游发挥作用;细胞内信号传导;以及控制平衡的神经肌肉过程。位于PML体和复制叉。与染色体、端粒区共定位。在包括消化系统、大脑、生殖泌尿系统、心脏和呼吸系统在内的几个结构中表达。用于研究Nijmegen断裂综合征和T细胞急性成淋巴细胞白血病。该基因的人类同源物涉及几种疾病,包括Nijmegen断裂综合征;急性成淋巴细胞白血病;再生障碍性贫血;乳腺癌;和生殖器官癌症(多种)。与人类NBN(nibrin)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:27354
ENSEMBL:ENSMUSG00000028224
UNIPROT:Q9R207
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
27354
7
16
37202 bp
83.80
25
9
Nbn Genetics information (+)
GRCm39
Sequence Homology
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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Type
Name
MGI
Strain of Origin
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References Literature
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Year
IF
No Data Found!
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