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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
Dclre1c - DNA cross-link repair 1C
Alias:
Art
Snm1l
9930121L06Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码SNM1家族核酸酶成员,参与V(D)J重组和DNA修复。这个蛋白具有单链特异性的5'-3'外切核酸酶活性;它还在5'和3'突出端和发卡结构上表现出核酸内切酶活性。该蛋白还在响应DNA损伤的细胞周期调节中发挥作用。这个基因的纯合敲除小鼠表现出严重的联合免疫缺陷,对电离辐射敏感。人类中这个基因的突变可能导致Athabascan型严重联合免疫缺陷(SCIDA)和Omenn综合征。可变剪接导致编码不同异构体的多种转录变异体。[由RefSeq,2014年11月提供]
Related ID:
NCBI:227525
ENSEMBL:ENSMUSG00000026648
UNIPROT:Q8K4J0
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
227525
25
14
50137 bp
78.83
14
8
Dclre1c Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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